Canonical Allele Identifier: CA279602
Gene: ABCC8 HGNC NCBI

Linked Data

dbSNP Id: rs863225279

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17394356_17394357del , CM000673.2:g.17394356_17394357del GRCh38
NC_000011.9:g.17415903_17415904del , CM000673.1:g.17415903_17415904del GRCh37
NC_000011.8:g.17372479_17372480del NCBI36
NG_008867.1:g.87548_87549del

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.4057_4058del
ENST00000526037.6:n.391_392del
ENST00000528374.2:c.1047_1048del
ENST00000529967.6:n.2795_2796del
ENST00000532220.2:n.3689_3690del
ENST00000642611.2:n.5789_5790del
ENST00000644057.2:n.1032_1033del
ENST00000645004.2:n.1955_1956del
ENST00000682051.1:n.4618_4619del
ENST00000682110.1:n.4671_4672del
ENST00000682140.1:c.*242_*243del ENSP00000507829.1:n.*242_*243del
ENST00000682185.1:n.5761_5762del
ENST00000682204.1:c.*2594_*2595del ENSP00000507094.1:n.*2594_*2595del
ENST00000682215.1:n.5038_5039del
ENST00000682288.1:c.*2887_*2888del ENSP00000507506.1:n.*2887_*2888del
ENST00000682442.1:n.4891_4892del
ENST00000682528.1:n.4748_4749del
ENST00000682673.1:n.4615_4616del
ENST00000682805.1:n.5076_5077del
ENST00000682965.1:c.*878_*879del ENSP00000508229.1:n.*878_*879del
ENST00000683093.1:n.5651_5652del
ENST00000683136.1:c.4339_4340del ENSP00000507768.1:p.Arg1447AlafsTer26
ENST00000683153.1:n.4713_4714del
ENST00000683365.1:n.4773_4774del
ENST00000683377.1:n.4567_4568del
ENST00000683456.1:c.*1593_*1594del ENSP00000508318.1:n.*1593_*1594del
ENST00000683522.1:n.4753_4754del
ENST00000683562.1:c.*2521_*2522del ENSP00000508265.1:n.*2521_*2522del
ENST00000683693.1:n.6132_6133del
ENST00000683725.1:c.4352_4353del ENSP00000507496.1:p.Glu1451GlyfsTer11
ENST00000684010.1:n.4666_4667del
ENST00000684014.1:n.643_644del
ENST00000684157.1:n.5656_5657del
ENST00000684253.1:n.4574_4575del
ENST00000684288.1:c.*2628_*2629del ENSP00000507143.1:n.*2628_*2629del
ENST00000684313.1:n.4103_4104del
ENST00000684332.1:n.4744_4745del
ENST00000684371.1:n.4777_4778del
ENST00000684404.1:n.5699_5700del
ENST00000684442.1:n.4895_4896del
ENST00000684555.1:c.*2668_*2669del ENSP00000507705.1:n.*2668_*2669del
ENST00000684571.1:c.4297_4298del ENSP00000506935.1:p.Arg1433AlafsTer26
ENST00000684593.1:c.*4161_*4162del ENSP00000507005.1:n.*4161_*4162del
ENST00000684711.1:c.*2852_*2853del ENSP00000506841.1:n.*2852_*2853del
ENST00000302539.9:c.4459_4460del ENSP00000303960.4:p.Arg1487AlafsTer26
ENST00000389817.8:c.4456_4457del MANE Select ENSP00000374467.4:p.Arg1486AlafsTer26
ENST00000642271.1:c.4453_4454del ENSP00000493749.1:p.Arg1485AlafsTer26
ENST00000642579.1:c.2510_2511del
ENST00000642611.1:n.5674_5675del
ENST00000642902.1:c.4238_4239del
ENST00000643260.1:c.4456_4457del ENSP00000494450.1:p.Arg1486AlafsTer26
ENST00000643562.1:c.*2578_*2579del ENSP00000496124.1:n.*2578_*2579del
ENST00000643925.1:c.3096_3097del
ENST00000644057.1:n.615_616del
ENST00000644484.1:c.*3842_*3843del ENSP00000493558.1:n.*3842_*3843del
ENST00000644675.1:c.*2628_*2629del ENSP00000494567.1:n.*2628_*2629del
ENST00000644757.1:c.*3203-1375_*3203-1374del ENSP00000495085.1:n.*3203-1375_*3203-1374...
ENST00000644772.1:c.4522_4523del ENSP00000494321.1:p.Arg1508AlafsTer26
ENST00000645004.1:n.2149_2150del
ENST00000645076.1:c.3551_3552del
ENST00000645417.1:c.1644_1645del
ENST00000645744.1:c.*4141_*4142del ENSP00000494564.1:n.*4141_*4142del
ENST00000645760.1:c.4877_4878del
ENST00000645884.1:c.*1739_*1740del ENSP00000495516.1:n.*1739_*1740del
ENST00000646003.1:c.*2478_*2479del ENSP00000495259.1:n.*2478_*2479del
ENST00000646207.1:c.*3293_*3294del ENSP00000495025.1:n.*3293_*3294del
ENST00000646276.1:c.*3860_*3861del ENSP00000496070.1:n.*3860_*3861del
ENST00000646592.1:c.3762_3763del
ENST00000646902.1:c.4423_4424del ENSP00000494101.1:p.Arg1475AlafsTer26
ENST00000646993.1:c.*2894_*2895del ENSP00000493720.1:n.*2894_*2895del
ENST00000647013.1:c.4462_4463del ENSP00000496741.1:n.4462_4463del
ENST00000647015.1:c.4207_4208del ENSP00000495389.1:p.Arg1403AlafsTer26
ENST00000647086.1:c.*4042_*4043del ENSP00000493677.1:n.*4042_*4043del
ENST00000647158.1:c.*2743_*2744del ENSP00000495744.1:n.*2743_*2744del
ENST00000302539.8:c.4459_4460del ENSP00000303960.4:p.Arg1487AlafsTer26
ENST00000389817.7:c.4456_4457del ENSP00000374467.3:p.Arg1486AlafsTer26
ENST00000525022.1:n.351_352del
ENST00000526037.5:n.216_217del
ENST00000526168.5:c.244_245del
ENST00000531642.5:c.487_488del
NM_000352.4:c.4456_4457del NP_000343.2:p.Arg1486AlafsTer26
NM_001287174.1:c.4459_4460del NP_001274103.1:p.Arg1487AlafsTer26
XM_011520331.1:c.4456_4457del XP_011518633.1:p.Arg1486AlafsTer26
XM_011520332.1:c.4355_4356del XP_011518634.1:p.Glu1452GlyfsTer11
XM_011520333.1:c.2956_2957del XP_011518635.1:p.Arg986AlafsTer26
XR_930890.1:n.4418_4419del
NM_001351295.1:c.4522_4523del NP_001338224.1:p.Arg1508AlafsTer26
NM_001351296.1:c.4456_4457del NP_001338225.1:p.Arg1486AlafsTer26
NM_001351297.1:c.4453_4454del NP_001338226.1:p.Arg1485AlafsTer26
NR_147094.1:n.4751_4752del
XM_017018197.2:c.4525_4526del XP_016873686.1:p.Arg1509AlafsTer26
XM_017018199.1:c.4522_4523del XP_016873688.1:p.Arg1508AlafsTer26
XM_017018201.2:c.4421_4422del XP_016873690.1:p.Glu1474GlyfsTer11
XM_017018202.1:c.3022_3023del XP_016873691.1:p.Arg1008AlafsTer26
XM_017018204.1:c.2413_2414del XP_016873693.1:p.Arg805AlafsTer26
XM_024448668.1:c.2824_2825del XP_024304436.1:p.Arg942AlafsTer26
XR_001747945.2:n.4493_4494del
XR_001747946.2:n.4424_4425del
XR_002957189.1:n.6207_6208del
NM_000352.6:c.4456_4457del MANE Select NP_000343.2:p.Arg1486AlafsTer26
NM_001287174.2:c.4459_4460del NP_001274103.1:p.Arg1487AlafsTer26
NM_001351295.2:c.4522_4523del NP_001338224.1:p.Arg1508AlafsTer26
NM_001351296.2:c.4456_4457del NP_001338225.1:p.Arg1486AlafsTer26
NM_001351297.2:c.4453_4454del NP_001338226.1:p.Arg1485AlafsTer26
NR_147094.2:n.4751_4752del
NM_001287174.3:c.4459_4460del NP_001274103.1:p.Arg1487AlafsTer26