Canonical Allele Identifier: CA2612663307
Gene: ABCC8 HGNC NCBI

Linked Data

gnomAD v4: 11-17410324-GTGA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17410326_17410328del , CM000673.2:g.17410326_17410328del GRCh38
NC_000011.9:g.17431873_17431875del , CM000673.1:g.17431873_17431875del GRCh37
NC_000011.8:g.17388449_17388451del NCBI36
NG_008867.1:g.71576_71578del

Transcript Alleles

HGVS Amino-acid Change
ENST00000524561.2:n.2363+189_2363+191del
ENST00000529967.6:n.953+189_953+191del
ENST00000642611.2:n.2763+189_2763+191del
ENST00000682051.1:n.2710+189_2710+191del
ENST00000682110.1:n.2763+189_2763+191del
ENST00000682140.1:c.2691+189_2691+191del ENSP00000507829.1:n.2691+189_2691+191del
ENST00000682185.1:n.3999+189_3999+191del
ENST00000682204.1:c.*832+189_*832+191del ENSP00000507094.1:n.*832+189_*832+191del
ENST00000682215.1:n.2760+189_2760+191del
ENST00000682288.1:c.*1125+189_*1125+191del ENSP00000507506.1:n.*1125+189_*1125+191del
ENST00000682442.1:n.2884+189_2884+191del
ENST00000682528.1:n.2760+189_2760+191del
ENST00000682673.1:n.2707+189_2707+191del
ENST00000682805.1:n.2760+189_2760+191del
ENST00000682965.1:c.2691+189_2691+191del ENSP00000508229.1:n.2691+189_2691+191del
ENST00000683093.1:n.2862+189_2862+191del
ENST00000683136.1:c.2691+189_2691+191del ENSP00000507768.1:n.2691+189_2691+191del
ENST00000683153.1:n.2919+189_2919+191del
ENST00000683365.1:n.2865+189_2865+191del
ENST00000683377.1:n.2763+189_2763+191del
ENST00000683456.1:c.2694+189_2694+191del ENSP00000508318.1:n.2694+189_2694+191del
ENST00000683522.1:n.2763+189_2763+191del
ENST00000683562.1:c.*863+189_*863+191del ENSP00000508265.1:n.*863+189_*863+191del
ENST00000683693.1:n.2760+189_2760+191del
ENST00000683725.1:c.2694+189_2694+191del ENSP00000507496.1:n.2694+189_2694+191del
ENST00000684010.1:n.2678+189_2678+191del
ENST00000684157.1:n.2763+189_2763+191del
ENST00000684253.1:n.2666+189_2666+191del
ENST00000684288.1:c.*866+189_*866+191del ENSP00000507143.1:n.*866+189_*866+191del
ENST00000684313.1:n.2195+189_2195+191del
ENST00000684332.1:n.2836+189_2836+191del
ENST00000684371.1:n.2869+189_2869+191del
ENST00000684404.1:n.2760+189_2760+191del
ENST00000684442.1:n.2763+189_2763+191del
ENST00000684555.1:c.*906+189_*906+191del ENSP00000507705.1:n.*906+189_*906+191del
ENST00000684571.1:c.2535+189_2535+191del ENSP00000506935.1:n.2535+189_2535+191del
ENST00000684593.1:c.*2399+189_*2399+191del ENSP00000507005.1:n.*2399+189_*2399+191del
ENST00000684711.1:c.*1090+189_*1090+191del ENSP00000506841.1:n.*1090+189_*1090+191del
ENST00000302539.9:c.2697+189_2697+191del ENSP00000303960.4:n.2697+189_2697+191del
ENST00000389817.8:c.2694+189_2694+191del MANE Select ENSP00000374467.4:n.2694+189_2694+191del
ENST00000642271.1:c.2691+189_2691+191del ENSP00000493749.1:n.2691+189_2691+191del
ENST00000642579.1:c.778+189_778+191del
ENST00000642611.1:n.2648+189_2648+191del
ENST00000642902.1:c.2529+189_2529+191del
ENST00000643260.1:c.2694+189_2694+191del ENSP00000494450.1:n.2694+189_2694+191del
ENST00000643562.1:c.*670+189_*670+191del ENSP00000496124.1:n.*670+189_*670+191del
ENST00000643925.1:c.738+189_738+191del
ENST00000644447.1:c.1050+189_1050+191del ENSP00000496282.1:n.1050+189_1050+191del
ENST00000644472.1:c.*1055+189_*1055+191del ENSP00000495378.1:n.*1055+189_*1055+191del
ENST00000644484.1:c.*903+189_*903+191del ENSP00000493558.1:n.*903+189_*903+191del
ENST00000644542.1:c.*2399+189_*2399+191del ENSP00000495532.1:n.*2399+189_*2399+191del
ENST00000644675.1:c.*866+189_*866+191del ENSP00000494567.1:n.*866+189_*866+191del
ENST00000644757.1:c.*999+189_*999+191del ENSP00000495085.1:n.*999+189_*999+191del
ENST00000644772.1:c.2760+189_2760+191del ENSP00000494321.1:n.2760+189_2760+191del
ENST00000645076.1:c.1946+189_1946+191del
ENST00000645744.1:c.*1058+189_*1058+191del ENSP00000494564.1:n.*1058+189_*1058+191del
ENST00000645760.1:c.2969+189_2969+191del
ENST00000645884.1:c.2694+189_2694+191del ENSP00000495516.1:n.2694+189_2694+191del
ENST00000646003.1:c.*750+189_*750+191del ENSP00000495259.1:n.*750+189_*750+191del
ENST00000646207.1:c.*1058+189_*1058+191del ENSP00000495025.1:n.*1058+189_*1058+191del
ENST00000646276.1:c.*967+189_*967+191del ENSP00000496070.1:n.*967+189_*967+191del
ENST00000646592.1:c.1920+189_1920+191del
ENST00000646902.1:c.2691+189_2691+191del ENSP00000494101.1:n.2691+189_2691+191del
ENST00000646993.1:c.*1090+189_*1090+191del ENSP00000493720.1:n.*1090+189_*1090+191del
ENST00000647013.1:c.2700+189_2700+191del ENSP00000496741.1:n.2700+189_2700+191del
ENST00000647015.1:c.2445+189_2445+191del ENSP00000495389.1:n.2445+189_2445+191del
ENST00000647086.1:c.*2424+189_*2424+191del ENSP00000493677.1:n.*2424+189_*2424+191del
ENST00000647158.1:c.*835+189_*835+191del ENSP00000495744.1:n.*835+189_*835+191del
ENST00000302539.8:c.2697+189_2697+191del ENSP00000303960.4:n.2697+189_2697+191del
ENST00000389817.7:c.2694+189_2694+191del ENSP00000374467.3:n.2694+189_2694+191del
ENST00000526921.5:n.378+189_378+191del
ENST00000527905.5:c.2664+189_2664+191del ENSP00000431653.1:n.2664+189_2664+191del
ENST00000529967.5:n.363+189_363+191del
ENST00000530147.5:n.466_468del
NM_000352.4:c.2694+189_2694+191del NP_000343.2:n.2694+189_2694+191del
NM_001287174.1:c.2697+189_2697+191del NP_001274103.1:n.2697+189_2697+191del
XM_011520331.1:c.2694+189_2694+191del XP_011518633.1:n.2694+189_2694+191del
XM_011520332.1:c.2697+189_2697+191del XP_011518634.1:n.2697+189_2697+191del
XM_011520333.1:c.1194+189_1194+191del XP_011518635.1:n.1194+189_1194+191del
XM_011520334.1:c.2697+189_2697+191del XP_011518636.1:n.2697+189_2697+191del
XR_930890.1:n.2760+189_2760+191del
XR_930891.1:n.2760+189_2760+191del
XR_930892.1:n.2760+189_2760+191del
XR_930893.1:n.2757+189_2757+191del
NM_001351295.1:c.2760+189_2760+191del NP_001338224.1:n.2760+189_2760+191del
NM_001351296.1:c.2694+189_2694+191del NP_001338225.1:n.2694+189_2694+191del
NM_001351297.1:c.2691+189_2691+191del NP_001338226.1:n.2691+189_2691+191del
NR_147094.1:n.2763+189_2763+191del
XM_017018197.2:c.2763+189_2763+191del XP_016873686.1:n.2763+189_2763+191del
XM_017018199.1:c.2760+189_2760+191del XP_016873688.1:n.2760+189_2760+191del
XM_017018201.2:c.2763+189_2763+191del XP_016873690.1:n.2763+189_2763+191del
XM_017018202.1:c.1260+189_1260+191del XP_016873691.1:n.1260+189_1260+191del
XM_017018204.1:c.651+189_651+191del XP_016873693.1:n.651+189_651+191del
XM_024448668.1:c.1062+189_1062+191del XP_024304436.1:n.1062+189_1062+191del
XR_001747945.2:n.2835+189_2835+191del
XR_001747946.2:n.2766+189_2766+191del
XR_002957189.1:n.2835+189_2835+191del
NM_000352.6:c.2694+189_2694+191del MANE Select NP_000343.2:n.2694+189_2694+191del
NM_001287174.2:c.2697+189_2697+191del NP_001274103.1:n.2697+189_2697+191del
NM_001351295.2:c.2760+189_2760+191del NP_001338224.1:n.2760+189_2760+191del
NM_001351296.2:c.2694+189_2694+191del NP_001338225.1:n.2694+189_2694+191del
NM_001351297.2:c.2691+189_2691+191del NP_001338226.1:n.2691+189_2691+191del
NR_147094.2:n.2763+189_2763+191del
NM_001287174.3:c.2697+189_2697+191del NP_001274103.1:n.2697+189_2697+191del
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