Canonical Allele Identifier: CA2695213276

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406955del , CM000673.2:g.17406955del	GRCh38
NC_000011.9:g.17428502del , CM000673.1:g.17428502del	GRCh37
NC_000011.8:g.17385078del	NCBI36
NG_008867.1:g.74949del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2665del
ENST00000529967.6:n.1435del
ENST00000532220.2:n.828del
ENST00000642611.2:n.3165del
ENST00000645004.2:n.595del
ENST00000682051.1:n.3112del
ENST00000682110.1:n.3165del
ENST00000682140.1:c.3093del	ENSP00000507829.1:p.Trp1031CysfsTer10
ENST00000682185.1:n.4401del
ENST00000682204.1:c.*1234del	ENSP00000507094.1:n.*1234del
ENST00000682215.1:n.3162del
ENST00000682288.1:c.*1527del	ENSP00000507506.1:n.*1527del
ENST00000682442.1:n.3286del
ENST00000682528.1:n.3242del
ENST00000682673.1:n.3109del
ENST00000682805.1:n.3162del
ENST00000682965.1:c.3093del	ENSP00000508229.1:p.Trp1031CysfsTer10
ENST00000683093.1:n.3264del
ENST00000683136.1:c.3093del	ENSP00000507768.1:p.Trp1031CysfsTer10
ENST00000683153.1:n.3321del
ENST00000683365.1:n.3267del
ENST00000683377.1:n.3165del
ENST00000683456.1:c.*233del	ENSP00000508318.1:n.*233del
ENST00000683522.1:n.3165del
ENST00000683562.1:c.*1265del	ENSP00000508265.1:n.*1265del
ENST00000683693.1:n.3242del
ENST00000683725.1:c.3096del	ENSP00000507496.1:p.Trp1032CysfsTer10
ENST00000684010.1:n.3160del
ENST00000684157.1:n.3165del
ENST00000684253.1:n.3068del
ENST00000684288.1:c.*1268del	ENSP00000507143.1:n.*1268del
ENST00000684313.1:n.2597del
ENST00000684332.1:n.3238del
ENST00000684371.1:n.3271del
ENST00000684404.1:n.3208del
ENST00000684442.1:n.3165del
ENST00000684555.1:c.*1308del	ENSP00000507705.1:n.*1308del
ENST00000684571.1:c.2937del	ENSP00000506935.1:p.Trp979CysfsTer10
ENST00000684593.1:c.*2801del	ENSP00000507005.1:n.*2801del
ENST00000684711.1:c.*1492del	ENSP00000506841.1:n.*1492del
ENST00000302539.9:c.3099del	ENSP00000303960.4:p.Trp1033CysfsTer10
ENST00000389817.8:c.3096del MANE Select	ENSP00000374467.4:p.Trp1032CysfsTer10
ENST00000642271.1:c.3093del	ENSP00000493749.1:p.Trp1031CysfsTer10
ENST00000642579.1:c.1180del
ENST00000642611.1:n.3050del
ENST00000642902.1:c.2878del
ENST00000643260.1:c.3096del	ENSP00000494450.1:p.Trp1032CysfsTer10
ENST00000643562.1:c.*1072del	ENSP00000496124.1:n.*1072del
ENST00000643925.1:c.1220del
ENST00000644447.1:c.1452del	ENSP00000496282.1:p.Trp484CysfsTer10
ENST00000644484.1:c.*1351del	ENSP00000493558.1:n.*1351del
ENST00000644542.1:c.*2801del	ENSP00000495532.1:n.*2801del
ENST00000644675.1:c.*1268del	ENSP00000494567.1:n.*1268del
ENST00000644757.1:c.*1381del	ENSP00000495085.1:n.*1381del
ENST00000644772.1:c.3162del	ENSP00000494321.1:p.Trp1054CysfsTer10
ENST00000645004.1:n.235del
ENST00000645076.1:c.2295del
ENST00000645417.1:c.262del
ENST00000645744.1:c.*1360del	ENSP00000494564.1:n.*1360del
ENST00000645760.1:c.3371del
ENST00000645884.1:c.*233del	ENSP00000495516.1:n.*233del
ENST00000646003.1:c.*1052del	ENSP00000495259.1:n.*1052del
ENST00000646207.1:c.*1563del	ENSP00000495025.1:n.*1563del
ENST00000646276.1:c.*1369del	ENSP00000496070.1:n.*1369del
ENST00000646592.1:c.2402del
ENST00000646902.1:c.3093del	ENSP00000494101.1:p.Trp1031CysfsTer10
ENST00000646993.1:c.*1492del	ENSP00000493720.1:n.*1492del
ENST00000647013.1:c.3102del	ENSP00000496741.1:n.3102del
ENST00000647015.1:c.2847del	ENSP00000495389.1:p.Trp949CysfsTer10
ENST00000647086.1:c.*2826del	ENSP00000493677.1:n.*2826del
ENST00000647158.1:c.*1237del	ENSP00000495744.1:n.*1237del
ENST00000302539.8:c.3099del	ENSP00000303960.4:p.Trp1033CysfsTer10
ENST00000389817.7:c.3096del	ENSP00000374467.3:p.Trp1032CysfsTer10
ENST00000524561.1:n.228del
ENST00000526921.5:n.780del
ENST00000527905.5:c.2966del	ENSP00000431653.1:p.Gly989AlafsTer?
ENST00000529967.5:n.765del
NM_000352.4:c.3096del	NP_000343.2:p.Trp1032CysfsTer10
NM_001287174.1:c.3099del	NP_001274103.1:p.Trp1033CysfsTer10
XM_011520331.1:c.3096del	XP_011518633.1:p.Trp1032CysfsTer10
XM_011520332.1:c.3099del	XP_011518634.1:p.Trp1033CysfsTer10
XM_011520333.1:c.1596del	XP_011518635.1:p.Trp532CysfsTer10
XR_930890.1:n.3162del
XR_930891.1:n.3162del
XR_930892.1:n.3062del
XR_930893.1:n.3059del
NM_001351295.1:c.3162del	NP_001338224.1:p.Trp1054CysfsTer10
NM_001351296.1:c.3096del	NP_001338225.1:p.Trp1032CysfsTer10
NM_001351297.1:c.3093del	NP_001338226.1:p.Trp1031CysfsTer10
NR_147094.1:n.3245del
XM_017018197.2:c.3165del	XP_016873686.1:p.Trp1055CysfsTer10
XM_017018199.1:c.3162del	XP_016873688.1:p.Trp1054CysfsTer10
XM_017018201.2:c.3165del	XP_016873690.1:p.Trp1055CysfsTer10
XM_017018202.1:c.1662del	XP_016873691.1:p.Trp554CysfsTer10
XM_017018204.1:c.1053del	XP_016873693.1:p.Trp351CysfsTer10
XM_024448668.1:c.1464del	XP_024304436.1:p.Trp488CysfsTer10
XR_001747945.2:n.3237del
XR_001747946.2:n.3168del
XR_002957189.1:n.3317del
NM_000352.6:c.3096del MANE Select	NP_000343.2:p.Trp1032CysfsTer10
NM_001287174.2:c.3099del	NP_001274103.1:p.Trp1033CysfsTer10
NM_001351295.2:c.3162del	NP_001338224.1:p.Trp1054CysfsTer10
NM_001351296.2:c.3096del	NP_001338225.1:p.Trp1032CysfsTer10
NM_001351297.2:c.3093del	NP_001338226.1:p.Trp1031CysfsTer10
NR_147094.2:n.3245del
NM_001287174.3:c.3099del	NP_001274103.1:p.Trp1033CysfsTer10