Canonical Allele Identifier: CA1955130190
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17410355_17410356delinsTC , CM000673.2:g.17410355_17410356delinsTC GRCh38
NC_000011.9:g.17431902_17431903delinsTC , CM000673.1:g.17431902_17431903delinsTC GRCh37
NC_000011.8:g.17388478_17388479delinsTC NCBI36
NG_008867.1:g.71547_71548delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2363+160_2363+161delinsGA
ENST00000529967.6:n.953+160_953+161delinsGA
ENST00000642611.2:n.2763+160_2763+161delinsGA
ENST00000682051.1:n.2710+160_2710+161delinsGA
ENST00000682110.1:n.2763+160_2763+161delinsGA
ENST00000682140.1:c.2691+160_2691+161delinsGA ENSP00000507829.1:n.2691+160_2691+161delinsGA
ENST00000682185.1:n.3999+160_3999+161delinsGA
ENST00000682204.1:c.*832+160_*832+161delinsGA ENSP00000507094.1:n.*832+160_*832+161delinsGA
ENST00000682215.1:n.2760+160_2760+161delinsGA
ENST00000682288.1:c.*1125+160_*1125+161delinsGA ENSP00000507506.1:n.*1125+160_*1125+161delinsGA
ENST00000682442.1:n.2884+160_2884+161delinsGA
ENST00000682528.1:n.2760+160_2760+161delinsGA
ENST00000682673.1:n.2707+160_2707+161delinsGA
ENST00000682805.1:n.2760+160_2760+161delinsGA
ENST00000682965.1:c.2691+160_2691+161delinsGA ENSP00000508229.1:n.2691+160_2691+161delinsGA
ENST00000683093.1:n.2862+160_2862+161delinsGA
ENST00000683136.1:c.2691+160_2691+161delinsGA ENSP00000507768.1:n.2691+160_2691+161delinsGA
ENST00000683153.1:n.2919+160_2919+161delinsGA
ENST00000683365.1:n.2865+160_2865+161delinsGA
ENST00000683377.1:n.2763+160_2763+161delinsGA
ENST00000683456.1:c.2694+160_2694+161delinsGA ENSP00000508318.1:n.2694+160_2694+161delinsGA
ENST00000683522.1:n.2763+160_2763+161delinsGA
ENST00000683562.1:c.*863+160_*863+161delinsGA ENSP00000508265.1:n.*863+160_*863+161delinsGA
ENST00000683693.1:n.2760+160_2760+161delinsGA
ENST00000683725.1:c.2694+160_2694+161delinsGA ENSP00000507496.1:n.2694+160_2694+161delinsGA
ENST00000684010.1:n.2678+160_2678+161delinsGA
ENST00000684157.1:n.2763+160_2763+161delinsGA
ENST00000684253.1:n.2666+160_2666+161delinsGA
ENST00000684288.1:c.*866+160_*866+161delinsGA ENSP00000507143.1:n.*866+160_*866+161delinsGA
ENST00000684313.1:n.2195+160_2195+161delinsGA
ENST00000684332.1:n.2836+160_2836+161delinsGA
ENST00000684371.1:n.2869+160_2869+161delinsGA
ENST00000684404.1:n.2760+160_2760+161delinsGA
ENST00000684442.1:n.2763+160_2763+161delinsGA
ENST00000684555.1:c.*906+160_*906+161delinsGA ENSP00000507705.1:n.*906+160_*906+161delinsGA
ENST00000684571.1:c.2535+160_2535+161delinsGA ENSP00000506935.1:n.2535+160_2535+161delinsGA
ENST00000684593.1:c.*2399+160_*2399+161delinsGA ENSP00000507005.1:n.*2399+160_*2399+161delinsGA
ENST00000684711.1:c.*1090+160_*1090+161delinsGA ENSP00000506841.1:n.*1090+160_*1090+161delinsGA
ENST00000302539.9:c.2697+160_2697+161delinsGA ENSP00000303960.4:n.2697+160_2697+161delinsGA
ENST00000389817.8:c.2694+160_2694+161delinsGA MANE Select ENSP00000374467.4:n.2694+160_2694+161delinsGA
ENST00000642271.1:c.2691+160_2691+161delinsGA ENSP00000493749.1:n.2691+160_2691+161delinsGA
ENST00000642579.1:c.778+160_778+161delinsGA
ENST00000642611.1:n.2648+160_2648+161delinsGA
ENST00000642902.1:c.2529+160_2529+161delinsGA
ENST00000643260.1:c.2694+160_2694+161delinsGA ENSP00000494450.1:n.2694+160_2694+161delinsGA
ENST00000643562.1:c.*670+160_*670+161delinsGA ENSP00000496124.1:n.*670+160_*670+161delinsGA
ENST00000643925.1:c.738+160_738+161delinsGA
ENST00000644447.1:c.1050+160_1050+161delinsGA ENSP00000496282.1:n.1050+160_1050+161delinsGA
ENST00000644472.1:c.*1055+160_*1055+161delinsGA ENSP00000495378.1:n.*1055+160_*1055+161delinsGA
ENST00000644484.1:c.*903+160_*903+161delinsGA ENSP00000493558.1:n.*903+160_*903+161delinsGA
ENST00000644542.1:c.*2399+160_*2399+161delinsGA ENSP00000495532.1:n.*2399+160_*2399+161delinsGA
ENST00000644675.1:c.*866+160_*866+161delinsGA ENSP00000494567.1:n.*866+160_*866+161delinsGA
ENST00000644757.1:c.*999+160_*999+161delinsGA ENSP00000495085.1:n.*999+160_*999+161delinsGA
ENST00000644772.1:c.2760+160_2760+161delinsGA ENSP00000494321.1:n.2760+160_2760+161delinsGA
ENST00000645076.1:c.1946+160_1946+161delinsGA
ENST00000645744.1:c.*1058+160_*1058+161delinsGA ENSP00000494564.1:n.*1058+160_*1058+161delinsGA
ENST00000645760.1:c.2969+160_2969+161delinsGA
ENST00000645884.1:c.2694+160_2694+161delinsGA ENSP00000495516.1:n.2694+160_2694+161delinsGA
ENST00000646003.1:c.*750+160_*750+161delinsGA ENSP00000495259.1:n.*750+160_*750+161delinsGA
ENST00000646207.1:c.*1058+160_*1058+161delinsGA ENSP00000495025.1:n.*1058+160_*1058+161delinsGA
ENST00000646276.1:c.*967+160_*967+161delinsGA ENSP00000496070.1:n.*967+160_*967+161delinsGA
ENST00000646592.1:c.1920+160_1920+161delinsGA
ENST00000646902.1:c.2691+160_2691+161delinsGA ENSP00000494101.1:n.2691+160_2691+161delinsGA
ENST00000646993.1:c.*1090+160_*1090+161delinsGA ENSP00000493720.1:n.*1090+160_*1090+161delinsGA
ENST00000647013.1:c.2700+160_2700+161delinsGA ENSP00000496741.1:n.2700+160_2700+161delinsGA
ENST00000647015.1:c.2445+160_2445+161delinsGA ENSP00000495389.1:n.2445+160_2445+161delinsGA
ENST00000647086.1:c.*2424+160_*2424+161delinsGA ENSP00000493677.1:n.*2424+160_*2424+161delinsGA
ENST00000647158.1:c.*835+160_*835+161delinsGA ENSP00000495744.1:n.*835+160_*835+161delinsGA
ENST00000302539.8:c.2697+160_2697+161delinsGA ENSP00000303960.4:n.2697+160_2697+161delinsGA
ENST00000389817.7:c.2694+160_2694+161delinsGA ENSP00000374467.3:n.2694+160_2694+161delinsGA
ENST00000526921.5:n.378+160_378+161delinsGA
ENST00000527905.5:c.2664+160_2664+161delinsGA ENSP00000431653.1:n.2664+160_2664+161delinsGA
ENST00000529967.5:n.363+160_363+161delinsGA
ENST00000530147.5:n.437_438delinsGA
NM_000352.4:c.2694+160_2694+161delinsGA NP_000343.2:n.2694+160_2694+161delinsGA
NM_001287174.1:c.2697+160_2697+161delinsGA NP_001274103.1:n.2697+160_2697+161delinsGA
XM_011520331.1:c.2694+160_2694+161delinsGA XP_011518633.1:n.2694+160_2694+161delinsGA
XM_011520332.1:c.2697+160_2697+161delinsGA XP_011518634.1:n.2697+160_2697+161delinsGA
XM_011520333.1:c.1194+160_1194+161delinsGA XP_011518635.1:n.1194+160_1194+161delinsGA
XM_011520334.1:c.2697+160_2697+161delinsGA XP_011518636.1:n.2697+160_2697+161delinsGA
XR_930890.1:n.2760+160_2760+161delinsGA
XR_930891.1:n.2760+160_2760+161delinsGA
XR_930892.1:n.2760+160_2760+161delinsGA
XR_930893.1:n.2757+160_2757+161delinsGA
NM_001351295.1:c.2760+160_2760+161delinsGA NP_001338224.1:n.2760+160_2760+161delinsGA
NM_001351296.1:c.2694+160_2694+161delinsGA NP_001338225.1:n.2694+160_2694+161delinsGA
NM_001351297.1:c.2691+160_2691+161delinsGA NP_001338226.1:n.2691+160_2691+161delinsGA
NR_147094.1:n.2763+160_2763+161delinsGA
XM_017018197.2:c.2763+160_2763+161delinsGA XP_016873686.1:n.2763+160_2763+161delinsGA
XM_017018199.1:c.2760+160_2760+161delinsGA XP_016873688.1:n.2760+160_2760+161delinsGA
XM_017018201.2:c.2763+160_2763+161delinsGA XP_016873690.1:n.2763+160_2763+161delinsGA
XM_017018202.1:c.1260+160_1260+161delinsGA XP_016873691.1:n.1260+160_1260+161delinsGA
XM_017018204.1:c.651+160_651+161delinsGA XP_016873693.1:n.651+160_651+161delinsGA
XM_024448668.1:c.1062+160_1062+161delinsGA XP_024304436.1:n.1062+160_1062+161delinsGA
XR_001747945.2:n.2835+160_2835+161delinsGA
XR_001747946.2:n.2766+160_2766+161delinsGA
XR_002957189.1:n.2835+160_2835+161delinsGA
NM_000352.6:c.2694+160_2694+161delinsGA MANE Select NP_000343.2:n.2694+160_2694+161delinsGA
NM_001287174.2:c.2697+160_2697+161delinsGA NP_001274103.1:n.2697+160_2697+161delinsGA
NM_001351295.2:c.2760+160_2760+161delinsGA NP_001338224.1:n.2760+160_2760+161delinsGA
NM_001351296.2:c.2694+160_2694+161delinsGA NP_001338225.1:n.2694+160_2694+161delinsGA
NM_001351297.2:c.2691+160_2691+161delinsGA NP_001338226.1:n.2691+160_2691+161delinsGA
NR_147094.2:n.2763+160_2763+161delinsGA
NM_001287174.3:c.2697+160_2697+161delinsGA NP_001274103.1:n.2697+160_2697+161delinsGA