Canonical Allele Identifier: CA16041447
Gene: ABCC8 HGNC NCBI

Linked Data

ClinVar Variation Id: 371115
dbSNP Id: rs1057517019

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17410530dup , CM000673.2:g.17410530dup GRCh38
NC_000011.9:g.17432077dup , CM000673.1:g.17432077dup GRCh37
NC_000011.8:g.17388653dup NCBI36
NG_008867.1:g.71376dup

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.2352dup
ENST00000529967.6:n.942dup
ENST00000642611.2:n.2752dup
ENST00000682051.1:n.2699dup
ENST00000682110.1:n.2752dup
ENST00000682140.1:c.2680dup ENSP00000507829.1:p.His894ProfsTer26
ENST00000682185.1:n.3988dup
ENST00000682204.1:c.*821dup ENSP00000507094.1:n.*821dup
ENST00000682215.1:n.2749dup
ENST00000682288.1:c.*1114dup ENSP00000507506.1:n.*1114dup
ENST00000682442.1:n.2873dup
ENST00000682528.1:n.2749dup
ENST00000682673.1:n.2696dup
ENST00000682805.1:n.2749dup
ENST00000682965.1:c.2680dup ENSP00000508229.1:p.His894ProfsTer26
ENST00000683093.1:n.2851dup
ENST00000683136.1:c.2680dup ENSP00000507768.1:p.His894ProfsTer26
ENST00000683153.1:n.2908dup
ENST00000683365.1:n.2854dup
ENST00000683377.1:n.2752dup
ENST00000683456.1:c.2683dup ENSP00000508318.1:p.His895ProfsTer26
ENST00000683522.1:n.2752dup
ENST00000683562.1:c.*852dup ENSP00000508265.1:n.*852dup
ENST00000683693.1:n.2749dup
ENST00000683725.1:c.2683dup ENSP00000507496.1:p.His895ProfsTer26
ENST00000684010.1:n.2667dup
ENST00000684157.1:n.2752dup
ENST00000684253.1:n.2655dup
ENST00000684288.1:c.*855dup ENSP00000507143.1:n.*855dup
ENST00000684313.1:n.2184dup
ENST00000684332.1:n.2825dup
ENST00000684371.1:n.2858dup
ENST00000684404.1:n.2749dup
ENST00000684442.1:n.2752dup
ENST00000684555.1:c.*895dup ENSP00000507705.1:n.*895dup
ENST00000684571.1:c.2524dup ENSP00000506935.1:p.His842ProfsTer26
ENST00000684593.1:c.*2388dup ENSP00000507005.1:n.*2388dup
ENST00000684711.1:c.*1079dup ENSP00000506841.1:n.*1079dup
ENST00000302539.9:c.2686dup ENSP00000303960.4:p.His896ProfsTer26
ENST00000389817.8:c.2683dup MANE Select ENSP00000374467.4:p.His895ProfsTer26
ENST00000642271.1:c.2680dup ENSP00000493749.1:p.His894ProfsTer26
ENST00000642579.1:c.767dup
ENST00000642611.1:n.2637dup
ENST00000642902.1:c.2518dup
ENST00000643260.1:c.2683dup ENSP00000494450.1:p.His895ProfsTer26
ENST00000643562.1:c.*659dup ENSP00000496124.1:n.*659dup
ENST00000643925.1:c.727dup
ENST00000644447.1:c.1039dup ENSP00000496282.1:p.His347ProfsTer26
ENST00000644472.1:c.*1044dup ENSP00000495378.1:n.*1044dup
ENST00000644484.1:c.*892dup ENSP00000493558.1:n.*892dup
ENST00000644542.1:c.*2388dup ENSP00000495532.1:n.*2388dup
ENST00000644675.1:c.*855dup ENSP00000494567.1:n.*855dup
ENST00000644757.1:c.*988dup ENSP00000495085.1:n.*988dup
ENST00000644772.1:c.2749dup ENSP00000494321.1:p.His917ProfsTer26
ENST00000645076.1:c.1935dup
ENST00000645744.1:c.*1047dup ENSP00000494564.1:n.*1047dup
ENST00000645760.1:c.2958dup
ENST00000645884.1:c.2683dup ENSP00000495516.1:p.His895ProfsTer26
ENST00000646003.1:c.*739dup ENSP00000495259.1:n.*739dup
ENST00000646207.1:c.*1047dup ENSP00000495025.1:n.*1047dup
ENST00000646276.1:c.*956dup ENSP00000496070.1:n.*956dup
ENST00000646592.1:c.1909dup
ENST00000646902.1:c.2680dup ENSP00000494101.1:p.His894ProfsTer26
ENST00000646993.1:c.*1079dup ENSP00000493720.1:n.*1079dup
ENST00000647013.1:c.2689dup ENSP00000496741.1:n.2689dup
ENST00000647015.1:c.2434dup ENSP00000495389.1:p.His812ProfsTer26
ENST00000647086.1:c.*2413dup ENSP00000493677.1:n.*2413dup
ENST00000647158.1:c.*824dup ENSP00000495744.1:n.*824dup
ENST00000302539.8:c.2686dup ENSP00000303960.4:p.His896ProfsTer26
ENST00000389817.7:c.2683dup ENSP00000374467.3:p.His895ProfsTer26
ENST00000526921.5:n.367dup
ENST00000527905.5:c.2653dup ENSP00000431653.1:p.His885ProfsTer26
ENST00000529967.5:n.352dup
ENST00000530147.5:n.266dup
NM_000352.4:c.2683dup NP_000343.2:p.His895ProfsTer26
NM_001287174.1:c.2686dup NP_001274103.1:p.His896ProfsTer26
XM_011520331.1:c.2683dup XP_011518633.1:p.His895ProfsTer26
XM_011520332.1:c.2686dup XP_011518634.1:p.His896ProfsTer26
XM_011520333.1:c.1183dup XP_011518635.1:p.His395ProfsTer26
XM_011520334.1:c.2686dup XP_011518636.1:p.His896ProfsTer26
XR_930890.1:n.2749dup
XR_930891.1:n.2749dup
XR_930892.1:n.2749dup
XR_930893.1:n.2746dup
NM_001351295.1:c.2749dup NP_001338224.1:p.His917ProfsTer26
NM_001351296.1:c.2683dup NP_001338225.1:p.His895ProfsTer26
NM_001351297.1:c.2680dup NP_001338226.1:p.His894ProfsTer26
NR_147094.1:n.2752dup
XM_017018197.2:c.2752dup XP_016873686.1:p.His918ProfsTer26
XM_017018199.1:c.2749dup XP_016873688.1:p.His917ProfsTer26
XM_017018201.2:c.2752dup XP_016873690.1:p.His918ProfsTer26
XM_017018202.1:c.1249dup XP_016873691.1:p.His417ProfsTer26
XM_017018204.1:c.640dup XP_016873693.1:p.His214ProfsTer26
XM_024448668.1:c.1051dup XP_024304436.1:p.His351ProfsTer26
XR_001747945.2:n.2824dup
XR_001747946.2:n.2755dup
XR_002957189.1:n.2824dup
NM_000352.6:c.2683dup MANE Select NP_000343.2:p.His895ProfsTer26
NM_001287174.2:c.2686dup NP_001274103.1:p.His896ProfsTer26
NM_001351295.2:c.2749dup NP_001338224.1:p.His917ProfsTer26
NM_001351296.2:c.2683dup NP_001338225.1:p.His895ProfsTer26
NM_001351297.2:c.2680dup NP_001338226.1:p.His894ProfsTer26
NR_147094.2:n.2752dup
NM_001287174.3:c.2686dup NP_001274103.1:p.His896ProfsTer26