IthaGenes

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Showing all entries with the following effect: insertion/deletion of codons (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
446	CD 6 -GAC [-Asp]	Hb Boyle Heights	HBA1:c.19_21delGAC \| HBA2:c.19_21delGAC	α1 or α2	Causative	α-chain variant	NG_000006.1	33794, 37598
2433	CD 13-14 -GCCTGG [-Ala-Trp]	Hb Souli	HBA2:c.40_45delGCCTGG	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	33815
2438	CD 22-26 (-9 bp)	Hb Zhanjiang	HBA2:c.69_77delCGAGTATGG	α2	Causative	α-chain variant	NG_000006.1	33844
357	CD 30 -GAG [-Glu]	N/A	HBA2:c.91_93delGAG	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33866
516	CD 37 +GAA [+Glu]	Hb Catonsville	HBA1:c.114_115insGAA \| HBA2:c.114_115insGAA	α1 or α2	Causative	α-chain variant	NG_000006.1	34006, 37810
3765	CD 39 (-ACC) [-Thr]	Hb Taybe	HBA2:c.118_120del	α2	Causative	α-chain variant, α-thalassaemia	NG_000006.1	34010
2535	CD 48-54 -18 bp	Hb Fenton	HBA2:c.146_163delTGAGCCACGGCTCTGCCC	α2	Causative	α-chain variant	NG_000006.1	34038
2955	CD 49-57 (-24bp): (-GCCACGGCTCTGCCCAGGTTAAGG)	Hb Goya	HBA2:c.149_172del	α2	Causative	α-chain variant	NG_000006.1	34041
3039	CD 52-59 (-24bp): (-TCTGCCCAGGTTAAGGGCCACGGC)	Hb J-Biskra	HBA2: c.157_180del	α2	Causative	α-chain variant	NG_000006.1	34049
2218	CD 63-76 (-42 bp)	N/A	HBA2:c.190_231del	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34082
611	CD 75 (-GAC)	Hb Watts	HBA2:c.226_228del	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34118
3080	CD 94 (+21 bp duplication)	Hb SKMC	HBA2:c.283_300+3dup	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34175
2369	CD 115 -GCC [-Ala]	Hb Towson	HBA2:c.346_348delGCC	α2	Causative	α-chain variant	NG_000006.1	34380
3029	CD 121 (+3bp): (+GTG)	Hb El Retiro	HBA2:c.364_366dupGTG	α2	Causative	α-chain variant	NG_000006.1	34398
2352	CD 2/3 +CTG [+Leu]	Hb Pittsburgh	HBA1:c.9_10insCTG	α1	Causative	α-chain variant	NG_000006.1	37588
370	CD 37 -CCC [-Pro)	Hb Heraklion	HBA1:c.112_114delCCC	α1	Causative	α-chain variant, α-thalassaemia, Haemolytic anaemia	NG_000006.1	37808
371	CD 39 (-ACC) [-Thr]	Hb Taybe	HBA1:c.118_120del	α1	Causative	α-chain variant, α-thalassaemia, Haemolytic anaemia	NG_000006.1	37814
3856	CD 40-41 (-AAGACC)	N/A	HBA1:c.121_126delAAGACC	α1	Causative	α-thalassaemia	NG_000006.1	37817
2529	CD 50 +GGAGCC	Hb Bakersfield	HBA1:c.151_152insGGAGCC	α1	Causative	α-chain variant	NG_000006.1	37847
556	CD 52-59 (-24 bp)	Hb J-Biskra	HBA1:c.157_180del	α1	Causative	α-chain variant	NG_000006.1	37853
3442	CD 51-58 (+24 bp)	Hb Choisy	HBA1:c.157_180dupTCTGCCCAGGTTAAGGGCCACGGC	α1	Causative	α-chain variant	NG_000006.1	37853
3075	CD 56/57 (+24bp) (HBA1:p.Lys57_Gly58insSerHisGlySerAlaGlnValLys , Hb KSVGH)	Hb Kaohsiung Veterans General Hospital	HBA1:c.171_172insAGCCACGGCTCTGCCCAAGTTAGG	α1	Causative	α-chain variant	NG_000006.1	37868
380	CD 61 (-AAG)	Hb Clinic	HBA1:c.184_186del	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	37880
381	CD 62 (-GTG) [-Val]	Hb Aghia Sophia	HBA1:c.187_189del	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	37883
383	CD 64-74 (-33 bp)	N/A	HBA1:c.193_225del33	α1	Causative	α-chain variant, α-thalassaemia, Haemolytic anaemia	NG_000006.1	37889
597	CD 68 +GCGCTGACCAAC [+Ala-Leu-Thr-Asn]	Hb Esch	HBA1:c.207_208insGCGCTGACCAAC	α1	Causative	α-chain variant	NG_000006.1	37904
385	CD 74/75 -GAC [- Asp]	N/A	HBA1:c.212_214delGAC	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37908
387	CD 82-84 (-9 bp)	N/A	HBA1:c.247_255del	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37943
2539	IVS II-3 (+21bp)	Hb SKMC	HBA1:c.283_300+3dup	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	37979
724	CD 117/118 +ATC [+Ile]	Hb Phnom Penh	HBA1:c.354_355insATC	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	38199
3036	CD 117/118 +TCA [+Ser]	Hb Wexham	HBA1:c.354_355insTCA	α1	Causative	α-chain variant	NG_000006.1	38199
3231	CD 7 (-3bp): (-GAG)	N/A	HBD:c.22_24delGAG	δ	Causative	δ-thalassaemia	NG_000007.3	63204
33	-22 to +23 (+45 bp duplication)	N/A	NG_000007.3:g.70573_70617dup	β	Causative	β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	70573
53	CD 2/3 (+T); CD 5 (-C)	Hb Antalya	HBB:c.[9dupT; 17delC]	β	Causative	β-thalassaemia, β-chain variant, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	70603, 70611
828	CD 7 (-GAG) [-Glu] (Hb Xinyi)	Hb Leiden	HBB:c.22_24delGAG	β	Causative	β-chain variant	NG_000007.3	70616
3297	CD 11-13 (-9bp): (-GTTACTGCC)	Hb JC-Paz	HBB:c.34_42delGTTACTGCC	β	Causative	β-chain variant	NG_000007.3	70628
125	CD 30/31 +CGG [+Arg]	N/A	HBB:c.93_94insCGG	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70817
131	CD 33-35 (-TGGTCT)	Hb Dresden	HBB:c.101_106delTGGTCT	β	Causative	β-chain variant, β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	70825
129	CD 33/34 (GTGGTC>GTC)	Hb Korea	HBB:c.102_104del	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70826
945	CD 42 (-TTT)	Hb Bruxelles	HBB:c.127_129delTTT	β	Causative	β-chain variant	NG_000007.3	70851
3298	CD 60-61 (-6bp): (-TGAAGG)	Hb Tavapy	HBB:c.182_187delTGAAGG	β	Causative	β-chain variant	NG_000007.3	70906
2525	CD 68/69 (+AAAGTGCTC)	Hb Bronx	HBB:c.199_207dupAAAGTGCTC	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70923
2445	CD 80 -AAC [-Asn]	Hb Saint-Chamond	HBB:c.241_243delAAC	β	Causative	β-chain variant	NG_000007.3	70965
1118	CD 94/95 +15 bp [+Glu-Leu-His-Cys-Asp]	Hb Fairfax	HBB:c.271_285dupGAGCTGCACTGTGAC	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70995
3057	CD 90 (+24 bp) (+AGCTGCACTGTGACAAGCTGCACG)	N/A	HBB:c.272_295dup	β	Causative	β-thalassaemia	NG_000007.3	70996
1100	CD 93-97 (-15 bp)	Hb Gun Hill \| Hb GH	HBB:c.280_294delTGTGACAAGCTGCAC	β	Causative	β-chain variant	NG_000007.3	71004
2191	CD 107-111 (-12 bp): (-GCAACGTGCTGG)	N/A	HBB:c.323_334del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71897
232	CD 108-112 (-12 bp) Asn-Val-Leu-Val-Cys to Ser	N/A	HBB:c.326_337delACGTGCTGGTCT	β	Causative	β-thalassaemia, β-chain variant, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	71900
248	CD 125 (+CCA)	N/A	HBB:c.376_378dupCCA	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71950
4087	CD 128-134 (-21bp): (-CAGGCTGCCTATCAGAAAGTG)	N/A	HBB:c.382_402del	β	Causative	β-thalassaemia	NG_000007.3	71956
263	CD 134-137 (-12, +6 bp) Val-Ala-Gly-Val to Gly-Arg	N/A	HBB:c.404_413delinsGCAG	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71978
264	CD 137-139 (-TGGCTA) Val-Ala-Asn to Asp	Hb Stara Zagora	HBB:c.413_418delTGGCTA	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71987
3087	CD 217 CAG>TAG [Gln>Stop]	N/A	NG_013087.1:g.6623C>T	KLF1	Modifier	Hb F levels	NG_013087.1	6623
3088	CD223 CAG>TAG [Gln>Stop]	N/A	NG_013087.1:g.6641C>T	KLF1	Modifier	Hb F levels	NG_013087.1	6641
2131	CD 270 (TCG>TAG)	N/A	NG_013087.1:g.6783C>A	KLF1	Modifier	Hb F levels	NG_013087.1	6783
3091	CD 290/293 (-12bp) or CD 290/294 (-12bp)	N/A	NG_013087.1:g.6842_6853delTACACCAAGAGC \| NG_013087.1:g.6843_6854delACACCAAGAGCT	KLF1	Modifier	Hb F levels	NG_013087.1	6842, 6843

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