Canonical Allele Identifier: CA1955153936
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17460474_17460475delinsCT , CM000673.2:g.17460474_17460475delinsCT GRCh38
NC_000011.9:g.17482021_17482022delinsCT , CM000673.1:g.17482021_17482022delinsCT GRCh37
NC_000011.8:g.17438597_17438598delinsCT NCBI36
NG_008867.1:g.21428_21429delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.648+2963_648+2964delinsAG
ENST00000526002.2:n.1024+13_1024+14delinsAG
ENST00000528202.6:n.1077+13_1077+14delinsAG
ENST00000642611.2:n.1077+13_1077+14delinsAG
ENST00000682051.1:n.1024+13_1024+14delinsAG
ENST00000682091.1:n.1986+13_1986+14delinsAG
ENST00000682110.1:n.1077+13_1077+14delinsAG
ENST00000682140.1:c.1008+13_1008+14delinsAG ENSP00000507829.1:n.1008+13_1008+14delinsAG
ENST00000682199.1:n.1077+13_1077+14delinsAG
ENST00000682204.1:c.1008+13_1008+14delinsAG ENSP00000507094.1:n.1008+13_1008+14delinsAG
ENST00000682215.1:n.1077+13_1077+14delinsAG
ENST00000682288.1:c.1008+13_1008+14delinsAG ENSP00000507506.1:n.1008+13_1008+14delinsAG
ENST00000682442.1:n.1111+13_1111+14delinsAG
ENST00000682528.1:n.1077+13_1077+14delinsAG
ENST00000682673.1:n.1024+13_1024+14delinsAG
ENST00000682805.1:n.1077+13_1077+14delinsAG
ENST00000682863.1:n.1077+13_1077+14delinsAG
ENST00000682965.1:c.1008+13_1008+14delinsAG ENSP00000508229.1:n.1008+13_1008+14delinsAG
ENST00000683093.1:n.1077+13_1077+14delinsAG
ENST00000683136.1:c.1008+13_1008+14delinsAG ENSP00000507768.1:n.1008+13_1008+14delinsAG
ENST00000683153.1:n.1077+13_1077+14delinsAG
ENST00000683253.1:n.1991+13_1991+14delinsAG
ENST00000683365.1:n.1077+13_1077+14delinsAG
ENST00000683377.1:n.1077+13_1077+14delinsAG
ENST00000683456.1:c.1008+13_1008+14delinsAG ENSP00000508318.1:n.1008+13_1008+14delinsAG
ENST00000683522.1:n.1077+13_1077+14delinsAG
ENST00000683531.1:n.1080+13_1080+14delinsAG
ENST00000683562.1:c.1011+13_1011+14delinsAG ENSP00000508265.1:n.1011+13_1011+14delinsAG
ENST00000683693.1:n.1077+13_1077+14delinsAG
ENST00000683725.1:c.1011+13_1011+14delinsAG ENSP00000507496.1:n.1011+13_1011+14delinsAG
ENST00000683808.1:n.347+13_347+14delinsAG
ENST00000684010.1:n.1077+13_1077+14delinsAG
ENST00000684157.1:n.1077+13_1077+14delinsAG
ENST00000684221.1:n.1860_1861delinsAG
ENST00000684253.1:n.1129+13_1129+14delinsAG
ENST00000684288.1:c.1011+13_1011+14delinsAG ENSP00000507143.1:n.1011+13_1011+14delinsAG
ENST00000684313.1:n.1104+13_1104+14delinsAG
ENST00000684332.1:n.1077+13_1077+14delinsAG
ENST00000684371.1:n.1024+13_1024+14delinsAG
ENST00000684404.1:n.1077+13_1077+14delinsAG
ENST00000684442.1:n.1077+13_1077+14delinsAG
ENST00000684555.1:c.1011+13_1011+14delinsAG ENSP00000507705.1:n.1011+13_1011+14delinsAG
ENST00000684571.1:c.1008+13_1008+14delinsAG ENSP00000506935.1:n.1008+13_1008+14delinsAG
ENST00000684593.1:c.*716+13_*716+14delinsAG ENSP00000507005.1:n.*716+13_*716+14delinsAG
ENST00000684711.1:c.1008+13_1008+14delinsAG ENSP00000506841.1:n.1008+13_1008+14delinsAG
ENST00000302539.9:c.1011+13_1011+14delinsAG ENSP00000303960.4:n.1011+13_1011+14delinsAG
ENST00000389817.8:c.1011+13_1011+14delinsAG MANE Select ENSP00000374467.4:n.1011+13_1011+14delinsAG
ENST00000532728.6:c.887+13_887+14delinsAG
ENST00000635881.1:n.1039+13_1039+14delinsAG
ENST00000642271.1:c.1008+13_1008+14delinsAG ENSP00000493749.1:n.1008+13_1008+14delinsAG
ENST00000642611.1:n.962+13_962+14delinsAG
ENST00000642902.1:c.992+13_992+14delinsAG
ENST00000643260.1:c.1008+13_1008+14delinsAG ENSP00000494450.1:n.1008+13_1008+14delinsAG
ENST00000643562.1:c.1011+13_1011+14delinsAG ENSP00000496124.1:n.1011+13_1011+14delinsAG
ENST00000644472.1:c.1008+13_1008+14delinsAG ENSP00000495378.1:n.1008+13_1008+14delinsAG
ENST00000644484.1:c.1008+13_1008+14delinsAG ENSP00000493558.1:n.1008+13_1008+14delinsAG
ENST00000644542.1:c.*713+13_*713+14delinsAG ENSP00000495532.1:n.*713+13_*713+14delinsAG
ENST00000644649.1:c.61+13_61+14delinsAG
ENST00000644675.1:c.1008+13_1008+14delinsAG ENSP00000494567.1:n.1008+13_1008+14delinsAG
ENST00000644757.1:c.1011+13_1011+14delinsAG ENSP00000495085.1:n.1011+13_1011+14delinsAG
ENST00000644772.1:c.1011+13_1011+14delinsAG ENSP00000494321.1:n.1011+13_1011+14delinsAG
ENST00000645076.1:c.293+13_293+14delinsAG
ENST00000645744.1:c.1008+13_1008+14delinsAG ENSP00000494564.1:n.1008+13_1008+14delinsAG
ENST00000645760.1:c.1184+13_1184+14delinsAG
ENST00000645884.1:c.1008+13_1008+14delinsAG ENSP00000495516.1:n.1008+13_1008+14delinsAG
ENST00000646003.1:c.1008+13_1008+14delinsAG ENSP00000495259.1:n.1008+13_1008+14delinsAG
ENST00000646207.1:c.1008+13_1008+14delinsAG ENSP00000495025.1:n.1008+13_1008+14delinsAG
ENST00000646276.1:c.987+13_987+14delinsAG ENSP00000496070.1:n.987+13_987+14delinsAG
ENST00000646592.1:c.262+13_262+14delinsAG
ENST00000646737.1:c.*1105+13_*1105+14delinsAG ENSP00000494874.1:n.*1105+13_*1105+14delinsAG
ENST00000646902.1:c.1008+13_1008+14delinsAG ENSP00000494101.1:n.1008+13_1008+14delinsAG
ENST00000646993.1:c.1011+13_1011+14delinsAG ENSP00000493720.1:n.1011+13_1011+14delinsAG
ENST00000647013.1:c.909+13_909+14delinsAG ENSP00000496741.1:n.909+13_909+14delinsAG
ENST00000647015.1:c.1011+13_1011+14delinsAG ENSP00000495389.1:n.1011+13_1011+14delinsAG
ENST00000647086.1:c.1008+13_1008+14delinsAG ENSP00000493677.1:n.1008+13_1008+14delinsAG
ENST00000647158.1:c.1008+13_1008+14delinsAG ENSP00000495744.1:n.1008+13_1008+14delinsAG
ENST00000302539.8:c.1011+13_1011+14delinsAG ENSP00000303960.4:n.1011+13_1011+14delinsAG
ENST00000389817.7:c.1011+13_1011+14delinsAG ENSP00000374467.3:n.1011+13_1011+14delinsAG
ENST00000527905.5:c.1011+13_1011+14delinsAG ENSP00000431653.1:n.1011+13_1011+14delinsAG
ENST00000532728.5:n.1042+13_1042+14delinsAG
NM_000352.4:c.1011+13_1011+14delinsAG NP_000343.2:n.1011+13_1011+14delinsAG
NM_001287174.1:c.1011+13_1011+14delinsAG NP_001274103.1:n.1011+13_1011+14delinsAG
XM_011520331.1:c.1008+13_1008+14delinsAG XP_011518633.1:n.1008+13_1008+14delinsAG
XM_011520332.1:c.1011+13_1011+14delinsAG XP_011518634.1:n.1011+13_1011+14delinsAG
XM_011520334.1:c.1011+13_1011+14delinsAG XP_011518636.1:n.1011+13_1011+14delinsAG
XR_930890.1:n.1074+13_1074+14delinsAG
XR_930891.1:n.1074+13_1074+14delinsAG
XR_930892.1:n.1074+13_1074+14delinsAG
XR_930893.1:n.1074+13_1074+14delinsAG
NM_001351295.1:c.1011+13_1011+14delinsAG NP_001338224.1:n.1011+13_1011+14delinsAG
NM_001351296.1:c.1008+13_1008+14delinsAG NP_001338225.1:n.1008+13_1008+14delinsAG
NM_001351297.1:c.1008+13_1008+14delinsAG NP_001338226.1:n.1008+13_1008+14delinsAG
NR_147094.1:n.1077+13_1077+14delinsAG
XM_017018197.2:c.1011+13_1011+14delinsAG XP_016873686.1:n.1011+13_1011+14delinsAG
XM_017018199.1:c.1008+13_1008+14delinsAG XP_016873688.1:n.1008+13_1008+14delinsAG
XM_017018201.2:c.1011+13_1011+14delinsAG XP_016873690.1:n.1011+13_1011+14delinsAG
XM_017018202.1:c.-507+13_-507+14delinsAG XP_016873691.1:n.-507+13_-507+14delinsAG
XM_024448668.1:c.-727+13_-727+14delinsAG XP_024304436.1:n.-727+13_-727+14delinsAG
XR_001747945.2:n.1083+13_1083+14delinsAG
XR_001747946.2:n.1083+13_1083+14delinsAG
XR_002957189.1:n.1083+13_1083+14delinsAG
NM_000352.6:c.1011+13_1011+14delinsAG MANE Select NP_000343.2:n.1011+13_1011+14delinsAG
NM_001287174.2:c.1011+13_1011+14delinsAG NP_001274103.1:n.1011+13_1011+14delinsAG
NM_001351295.2:c.1011+13_1011+14delinsAG NP_001338224.1:n.1011+13_1011+14delinsAG
NM_001351296.2:c.1008+13_1008+14delinsAG NP_001338225.1:n.1008+13_1008+14delinsAG
NM_001351297.2:c.1008+13_1008+14delinsAG NP_001338226.1:n.1008+13_1008+14delinsAG
NR_147094.2:n.1077+13_1077+14delinsAG
NM_001287174.3:c.1011+13_1011+14delinsAG NP_001274103.1:n.1011+13_1011+14delinsAG