Canonical Allele Identifier: CA1955123354
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17395890_17395893delinsAAGG , CM000673.2:g.17395890_17395893delinsAAGG GRCh38
NC_000011.9:g.17417437_17417440delinsAAGG , CM000673.1:g.17417437_17417440delinsAAGG GRCh37
NC_000011.8:g.17374013_17374016delinsAAGG NCBI36
NG_008867.1:g.86010_86013delinsCCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.3758_3761delinsCCTT
ENST00000528374.2:c.748_751delinsCCTT
ENST00000529967.6:n.2496_2499delinsCCTT
ENST00000532220.2:n.3390_3393delinsCCTT
ENST00000642611.2:n.5357_5360delinsCCTT
ENST00000644057.2:n.600_603delinsCCTT
ENST00000645004.2:n.1656_1659delinsCCTT
ENST00000682051.1:n.4319_4322delinsCCTT
ENST00000682110.1:n.4372_4375delinsCCTT
ENST00000682140.1:c.4023_4026delinsCCTT ENSP00000507829.1:p.Leu1341=
ENST00000682185.1:n.5462_5465delinsCCTT
ENST00000682204.1:c.*2295_*2298delinsCCTT ENSP00000507094.1:n.*2295_*2298delinsCCTT
ENST00000682215.1:n.4739_4742delinsCCTT
ENST00000682288.1:c.*2588_*2591delinsCCTT ENSP00000507506.1:n.*2588_*2591delinsCCTT
ENST00000682442.1:n.4592_4595delinsCCTT
ENST00000682528.1:n.4449_4452delinsCCTT
ENST00000682673.1:n.4316_4319delinsCCTT
ENST00000682805.1:n.4777_4780delinsCCTT
ENST00000682965.1:c.*579_*582delinsCCTT ENSP00000508229.1:n.*579_*582delinsCCTT
ENST00000683093.1:n.5456_5459delinsCCTT
ENST00000683136.1:c.4040_4043delinsCCTT ENSP00000507768.1:p.Ser1347=
ENST00000683153.1:n.4414_4417delinsCCTT
ENST00000683365.1:n.4474_4477delinsCCTT
ENST00000683377.1:n.4372_4375delinsCCTT
ENST00000683456.1:c.*1294_*1297delinsCCTT ENSP00000508318.1:n.*1294_*1297delinsCCTT
ENST00000683522.1:n.4372_4375delinsCCTT
ENST00000683562.1:c.*2326_*2329delinsCCTT ENSP00000508265.1:n.*2326_*2329delinsCCTT
ENST00000683693.1:n.5804_5807delinsCCTT
ENST00000683725.1:c.4157_4160delinsCCTT ENSP00000507496.1:p.Ser1386=
ENST00000684010.1:n.4367_4370delinsCCTT
ENST00000684157.1:n.5357_5360delinsCCTT
ENST00000684253.1:n.4275_4278delinsCCTT
ENST00000684288.1:c.*2329_*2332delinsCCTT ENSP00000507143.1:n.*2329_*2332delinsCCTT
ENST00000684313.1:n.3804_3807delinsCCTT
ENST00000684332.1:n.4445_4448delinsCCTT
ENST00000684371.1:n.4478_4481delinsCCTT
ENST00000684404.1:n.5400_5403delinsCCTT
ENST00000684442.1:n.4596_4599delinsCCTT
ENST00000684555.1:c.*2369_*2372delinsCCTT ENSP00000507705.1:n.*2369_*2372delinsCCTT
ENST00000684571.1:c.3998_4001delinsCCTT ENSP00000506935.1:p.Ser1333=
ENST00000684593.1:c.*3862_*3865delinsCCTT ENSP00000507005.1:n.*3862_*3865delinsCCTT
ENST00000684711.1:c.*2553_*2556delinsCCTT ENSP00000506841.1:n.*2553_*2556delinsCCTT
ENST00000302539.9:c.4160_4163delinsCCTT ENSP00000303960.4:p.Ser1387=
ENST00000389817.8:c.4157_4160delinsCCTT MANE Select ENSP00000374467.4:p.Ser1386=
ENST00000642271.1:c.4154_4157delinsCCTT ENSP00000493749.1:p.Ser1385=
ENST00000642579.1:c.2211_2214delinsCCTT
ENST00000642611.1:n.5242_5245delinsCCTT
ENST00000642902.1:c.3939_3942delinsCCTT
ENST00000643260.1:c.4157_4160delinsCCTT ENSP00000494450.1:p.Ser1386=
ENST00000643562.1:c.*2279_*2282delinsCCTT ENSP00000496124.1:n.*2279_*2282delinsCCTT
ENST00000643925.1:c.2797_2800delinsCCTT
ENST00000644057.1:n.234_237delinsCCTT
ENST00000644484.1:c.*3543_*3546delinsCCTT ENSP00000493558.1:n.*3543_*3546delinsCCTT
ENST00000644675.1:c.*2329_*2332delinsCCTT ENSP00000494567.1:n.*2329_*2332delinsCCTT
ENST00000644757.1:c.*3202+371_*3202+374delinsCCTT ENSP00000495085.1:n.*3202+371_*3202+374delinsCCTT
ENST00000644772.1:c.4223_4226delinsCCTT ENSP00000494321.1:p.Ser1408=
ENST00000645004.1:n.1850_1853delinsCCTT
ENST00000645076.1:c.3356_3359delinsCCTT
ENST00000645417.1:c.1345_1348delinsCCTT
ENST00000645744.1:c.*3922_*3925delinsCCTT ENSP00000494564.1:n.*3922_*3925delinsCCTT
ENST00000645760.1:c.4578_4581delinsCCTT
ENST00000645884.1:c.*1440_*1443delinsCCTT ENSP00000495516.1:n.*1440_*1443delinsCCTT
ENST00000646003.1:c.*2259_*2262delinsCCTT ENSP00000495259.1:n.*2259_*2262delinsCCTT
ENST00000646207.1:c.*2994_*2997delinsCCTT ENSP00000495025.1:n.*2994_*2997delinsCCTT
ENST00000646276.1:c.*3561_*3564delinsCCTT ENSP00000496070.1:n.*3561_*3564delinsCCTT
ENST00000646592.1:c.3463_3466delinsCCTT
ENST00000646902.1:c.4124_4127delinsCCTT ENSP00000494101.1:p.Ser1375=
ENST00000646993.1:c.*2699_*2702delinsCCTT ENSP00000493720.1:n.*2699_*2702delinsCCTT
ENST00000647013.1:c.4163_4166delinsCCTT ENSP00000496741.1:n.4163_4166delinsCCTT
ENST00000647015.1:c.3908_3911delinsCCTT ENSP00000495389.1:p.Ser1303=
ENST00000647086.1:c.*3743_*3746delinsCCTT ENSP00000493677.1:n.*3743_*3746delinsCCTT
ENST00000647158.1:c.*2444_*2447delinsCCTT ENSP00000495744.1:n.*2444_*2447delinsCCTT
ENST00000302539.8:c.4160_4163delinsCCTT ENSP00000303960.4:p.Ser1387=
ENST00000389817.7:c.4157_4160delinsCCTT ENSP00000374467.3:p.Ser1386=
ENST00000525022.1:n.23_26delinsCCTT
ENST00000526168.5:c.25_28delinsCCTT
NM_000352.4:c.4157_4160delinsCCTT NP_000343.2:p.Ser1386=
NM_001287174.1:c.4160_4163delinsCCTT NP_001274103.1:p.Ser1387=
XM_011520331.1:c.4157_4160delinsCCTT XP_011518633.1:p.Ser1386=
XM_011520332.1:c.4160_4163delinsCCTT XP_011518634.1:p.Ser1387=
XM_011520333.1:c.2657_2660delinsCCTT XP_011518635.1:p.Ser886=
XR_930890.1:n.4223_4226delinsCCTT
NM_001351295.1:c.4223_4226delinsCCTT NP_001338224.1:p.Ser1408=
NM_001351296.1:c.4157_4160delinsCCTT NP_001338225.1:p.Ser1386=
NM_001351297.1:c.4154_4157delinsCCTT NP_001338226.1:p.Ser1385=
NR_147094.1:n.4452_4455delinsCCTT
XM_017018197.2:c.4226_4229delinsCCTT XP_016873686.1:p.Ser1409=
XM_017018199.1:c.4223_4226delinsCCTT XP_016873688.1:p.Ser1408=
XM_017018201.2:c.4226_4229delinsCCTT XP_016873690.1:p.Ser1409=
XM_017018202.1:c.2723_2726delinsCCTT XP_016873691.1:p.Ser908=
XM_017018204.1:c.2114_2117delinsCCTT XP_016873693.1:p.Ser705=
XM_024448668.1:c.2525_2528delinsCCTT XP_024304436.1:p.Ser842=
XR_001747945.2:n.4298_4301delinsCCTT
XR_001747946.2:n.4229_4232delinsCCTT
XR_002957189.1:n.5879_5882delinsCCTT
NM_000352.6:c.4157_4160delinsCCTT MANE Select NP_000343.2:p.Ser1386=
NM_001287174.2:c.4160_4163delinsCCTT NP_001274103.1:p.Ser1387=
NM_001351295.2:c.4223_4226delinsCCTT NP_001338224.1:p.Ser1408=
NM_001351296.2:c.4157_4160delinsCCTT NP_001338225.1:p.Ser1386=
NM_001351297.2:c.4154_4157delinsCCTT NP_001338226.1:p.Ser1385=
NR_147094.2:n.4452_4455delinsCCTT
NM_001287174.3:c.4160_4163delinsCCTT NP_001274103.1:p.Ser1387=