Canonical Allele Identifier: CA1955122213
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17393538_17393539delinsCT , CM000673.2:g.17393538_17393539delinsCT GRCh38
NC_000011.9:g.17415085_17415086delinsCT , CM000673.1:g.17415085_17415086delinsCT GRCh37
NC_000011.8:g.17371661_17371662delinsCT NCBI36
NG_008867.1:g.88364_88365delinsAG
NG_012446.1:g.121_122delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.4209+158_4209+159delinsAG
ENST00000526037.6:n.543+158_543+159delinsAG
ENST00000528374.2:c.1199+158_1199+159delinsAG
ENST00000529967.6:n.2947+158_2947+159delinsAG
ENST00000532220.2:n.3841+158_3841+159delinsAG
ENST00000642611.2:n.5941+158_5941+159delinsAG
ENST00000644057.2:n.1184+158_1184+159delinsAG
ENST00000645004.2:n.2107+158_2107+159delinsAG
ENST00000682051.1:n.4770+158_4770+159delinsAG
ENST00000682110.1:n.4823+158_4823+159delinsAG
ENST00000682140.1:c.*394+158_*394+159delinsAG ENSP00000507829.1:n.*394+158_*394+159delinsAG
ENST00000682185.1:n.5913+158_5913+159delinsAG
ENST00000682204.1:c.*2746+158_*2746+159delinsAG ENSP00000507094.1:n.*2746+158_*2746+159delinsAG
ENST00000682215.1:n.5190+158_5190+159delinsAG
ENST00000682288.1:c.*3039+158_*3039+159delinsAG ENSP00000507506.1:n.*3039+158_*3039+159delinsAG
ENST00000682442.1:n.5043+158_5043+159delinsAG
ENST00000682528.1:n.4900+158_4900+159delinsAG
ENST00000682673.1:n.4767+158_4767+159delinsAG
ENST00000682805.1:n.5228+158_5228+159delinsAG
ENST00000682965.1:c.*1030+158_*1030+159delinsAG ENSP00000508229.1:n.*1030+158_*1030+159delinsAG
ENST00000683093.1:n.5803+158_5803+159delinsAG
ENST00000683136.1:c.4491+158_4491+159delinsAG ENSP00000507768.1:n.4491+158_4491+159delinsAG
ENST00000683153.1:n.4865+158_4865+159delinsAG
ENST00000683365.1:n.4925+158_4925+159delinsAG
ENST00000683377.1:n.4719+158_4719+159delinsAG
ENST00000683456.1:c.*1745+158_*1745+159delinsAG ENSP00000508318.1:n.*1745+158_*1745+159delinsAG
ENST00000683522.1:n.4905+158_4905+159delinsAG
ENST00000683562.1:c.*2673+158_*2673+159delinsAG ENSP00000508265.1:n.*2673+158_*2673+159delinsAG
ENST00000683693.1:n.6284+158_6284+159delinsAG
ENST00000683725.1:c.*73+158_*73+159delinsAG ENSP00000507496.1:n.*73+158_*73+159delinsAG
ENST00000684010.1:n.4818+158_4818+159delinsAG
ENST00000684014.1:n.795+158_795+159delinsAG
ENST00000684157.1:n.5808+158_5808+159delinsAG
ENST00000684253.1:n.4726+158_4726+159delinsAG
ENST00000684288.1:c.*2780+158_*2780+159delinsAG ENSP00000507143.1:n.*2780+158_*2780+159delinsAG
ENST00000684313.1:n.4255+158_4255+159delinsAG
ENST00000684332.1:n.4896+158_4896+159delinsAG
ENST00000684371.1:n.4929+158_4929+159delinsAG
ENST00000684404.1:n.5851+158_5851+159delinsAG
ENST00000684442.1:n.5047+158_5047+159delinsAG
ENST00000684555.1:c.*2820+158_*2820+159delinsAG ENSP00000507705.1:n.*2820+158_*2820+159delinsAG
ENST00000684571.1:c.4449+158_4449+159delinsAG ENSP00000506935.1:n.4449+158_4449+159delinsAG
ENST00000684593.1:c.*4313+158_*4313+159delinsAG ENSP00000507005.1:n.*4313+158_*4313+159delinsAG
ENST00000684711.1:c.*3004+158_*3004+159delinsAG ENSP00000506841.1:n.*3004+158_*3004+159delinsAG
ENST00000302539.9:c.4611+158_4611+159delinsAG ENSP00000303960.4:n.4611+158_4611+159delinsAG
ENST00000389817.8:c.4608+158_4608+159delinsAG MANE Select ENSP00000374467.4:n.4608+158_4608+159delinsAG
ENST00000642271.1:c.4605+158_4605+159delinsAG ENSP00000493749.1:n.4605+158_4605+159delinsAG
ENST00000642579.1:c.2662+158_2662+159delinsAG
ENST00000642611.1:n.5826+158_5826+159delinsAG
ENST00000642902.1:c.4390+158_4390+159delinsAG
ENST00000643260.1:c.4608+158_4608+159delinsAG ENSP00000494450.1:n.4608+158_4608+159delinsAG
ENST00000643562.1:c.*2730+158_*2730+159delinsAG ENSP00000496124.1:n.*2730+158_*2730+159delinsAG
ENST00000643925.1:c.3186-411_3186-410delinsAG
ENST00000644057.1:n.767+158_767+159delinsAG
ENST00000644484.1:c.*3994+158_*3994+159delinsAG ENSP00000493558.1:n.*3994+158_*3994+159delinsAG
ENST00000644675.1:c.*2780+158_*2780+159delinsAG ENSP00000494567.1:n.*2780+158_*2780+159delinsAG
ENST00000644757.1:c.*3203-559_*3203-558delinsAG ENSP00000495085.1:n.*3203-559_*3203-558delinsAG
ENST00000644772.1:c.4674+158_4674+159delinsAG ENSP00000494321.1:n.4674+158_4674+159delinsAG
ENST00000645004.1:n.2301+158_2301+159delinsAG
ENST00000645076.1:c.3703+158_3703+159delinsAG
ENST00000645417.1:c.1796+158_1796+159delinsAG
ENST00000645744.1:c.*4293+158_*4293+159delinsAG ENSP00000494564.1:n.*4293+158_*4293+159delinsAG
ENST00000645760.1:c.5029+158_5029+159delinsAG
ENST00000645884.1:c.*1891+158_*1891+159delinsAG ENSP00000495516.1:n.*1891+158_*1891+159delinsAG
ENST00000646003.1:c.*2630+158_*2630+159delinsAG ENSP00000495259.1:n.*2630+158_*2630+159delinsAG
ENST00000646207.1:c.*3445+158_*3445+159delinsAG ENSP00000495025.1:n.*3445+158_*3445+159delinsAG
ENST00000646276.1:c.*4012+158_*4012+159delinsAG ENSP00000496070.1:n.*4012+158_*4012+159delinsAG
ENST00000646592.1:c.3914+158_3914+159delinsAG
ENST00000646902.1:c.4575+158_4575+159delinsAG ENSP00000494101.1:n.4575+158_4575+159delinsAG
ENST00000646993.1:c.*3046+158_*3046+159delinsAG ENSP00000493720.1:n.*3046+158_*3046+159delinsAG
ENST00000647015.1:c.4359+158_4359+159delinsAG ENSP00000495389.1:n.4359+158_4359+159delinsAG
ENST00000647086.1:c.*4194+158_*4194+159delinsAG ENSP00000493677.1:n.*4194+158_*4194+159delinsAG
ENST00000647158.1:c.*2895+158_*2895+159delinsAG ENSP00000495744.1:n.*2895+158_*2895+159delinsAG
ENST00000302539.8:c.4611+158_4611+159delinsAG ENSP00000303960.4:n.4611+158_4611+159delinsAG
ENST00000389817.7:c.4608+158_4608+159delinsAG ENSP00000374467.3:n.4608+158_4608+159delinsAG
ENST00000525022.1:n.503+158_503+159delinsAG
ENST00000526037.5:n.368+158_368+159delinsAG
ENST00000526168.5:c.396+158_396+159delinsAG
ENST00000531642.5:c.639+158_639+159delinsAG
NM_000352.4:c.4608+158_4608+159delinsAG NP_000343.2:n.4608+158_4608+159delinsAG
NM_001287174.1:c.4611+158_4611+159delinsAG NP_001274103.1:n.4611+158_4611+159delinsAG
XM_011520331.1:c.4608+158_4608+159delinsAG XP_011518633.1:n.4608+158_4608+159delinsAG
XM_011520333.1:c.3108+158_3108+159delinsAG XP_011518635.1:n.3108+158_3108+159delinsAG
XR_930890.1:n.4570+158_4570+159delinsAG
NM_001351295.1:c.4674+158_4674+159delinsAG NP_001338224.1:n.4674+158_4674+159delinsAG
NM_001351296.1:c.4608+158_4608+159delinsAG NP_001338225.1:n.4608+158_4608+159delinsAG
NM_001351297.1:c.4605+158_4605+159delinsAG NP_001338226.1:n.4605+158_4605+159delinsAG
NR_147094.1:n.4903+158_4903+159delinsAG
XM_017018197.2:c.4677+158_4677+159delinsAG XP_016873686.1:n.4677+158_4677+159delinsAG
XM_017018199.1:c.4674+158_4674+159delinsAG XP_016873688.1:n.4674+158_4674+159delinsAG
XM_017018202.1:c.3174+158_3174+159delinsAG XP_016873691.1:n.3174+158_3174+159delinsAG
XM_017018204.1:c.2565+158_2565+159delinsAG XP_016873693.1:n.2565+158_2565+159delinsAG
XM_024448668.1:c.2976+158_2976+159delinsAG XP_024304436.1:n.2976+158_2976+159delinsAG
XR_001747945.2:n.4645+158_4645+159delinsAG
XR_001747946.2:n.4576+158_4576+159delinsAG
XR_002957189.1:n.6359+158_6359+159delinsAG
NM_000352.6:c.4608+158_4608+159delinsAG MANE Select NP_000343.2:n.4608+158_4608+159delinsAG
NM_001287174.2:c.4611+158_4611+159delinsAG NP_001274103.1:n.4611+158_4611+159delinsAG
NM_001351295.2:c.4674+158_4674+159delinsAG NP_001338224.1:n.4674+158_4674+159delinsAG
NM_001351296.2:c.4608+158_4608+159delinsAG NP_001338225.1:n.4608+158_4608+159delinsAG
NM_001351297.2:c.4605+158_4605+159delinsAG NP_001338226.1:n.4605+158_4605+159delinsAG
NR_147094.2:n.4903+158_4903+159delinsAG
NM_001287174.3:c.4611+158_4611+159delinsAG NP_001274103.1:n.4611+158_4611+159delinsAG