Canonical Allele Identifier: CA1955123994

Gene: ABCC8

Linked Data

• dbSNP Id: rs1953974232

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397123_17397125del , CM000673.2:g.17397123_17397125del	GRCh38
NC_000011.9:g.17418670_17418672del , CM000673.1:g.17418670_17418672del	GRCh37
NC_000011.8:g.17375246_17375248del	NCBI36
NG_008867.1:g.84778_84780del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3511_3513del
ENST00000528374.2:c.568-67_568-65del
ENST00000529967.6:n.2327+68_2327+70del
ENST00000532220.2:n.2158_2160del
ENST00000642611.2:n.4125_4127del
ENST00000644057.2:n.431+68_431+70del
ENST00000645004.2:n.1487+68_1487+70del
ENST00000682051.1:n.4072_4074del
ENST00000682110.1:n.4125_4127del
ENST00000682140.1:c.3985+68_3985+70del	ENSP00000507829.1:n.3985+68_3985+70del
ENST00000682185.1:n.5293+68_5293+70del
ENST00000682204.1:c.*2126+68_*2126+70del	ENSP00000507094.1:n.*2126+68_*2126+70del
ENST00000682215.1:n.4492_4494del
ENST00000682288.1:c.*2419+68_*2419+70del	ENSP00000507506.1:n.*2419+68_*2419+70del
ENST00000682442.1:n.4345_4347del
ENST00000682528.1:n.4202_4204del
ENST00000682673.1:n.4069_4071del
ENST00000682805.1:n.4492_4494del
ENST00000682965.1:c.*410+68_*410+70del	ENSP00000508229.1:n.*410+68_*410+70del
ENST00000683093.1:n.4224_4226del
ENST00000683136.1:c.3871+68_3871+70del	ENSP00000507768.1:n.3871+68_3871+70del
ENST00000683153.1:n.4167_4169del
ENST00000683365.1:n.4227_4229del
ENST00000683377.1:n.4125_4127del
ENST00000683456.1:c.*1125+68_*1125+70del	ENSP00000508318.1:n.*1125+68_*1125+70del
ENST00000683522.1:n.4125_4127del
ENST00000683562.1:c.*2157+68_*2157+70del	ENSP00000508265.1:n.*2157+68_*2157+70del
ENST00000683693.1:n.4572_4574del
ENST00000683725.1:c.3988+68_3988+70del	ENSP00000507496.1:n.3988+68_3988+70del
ENST00000684010.1:n.4120_4122del
ENST00000684157.1:n.4125_4127del
ENST00000684253.1:n.4028_4030del
ENST00000684288.1:c.*2160+68_*2160+70del	ENSP00000507143.1:n.*2160+68_*2160+70del
ENST00000684313.1:n.3557_3559del
ENST00000684332.1:n.4198_4200del
ENST00000684371.1:n.4231_4233del
ENST00000684404.1:n.4168_4170del
ENST00000684442.1:n.4427+68_4427+70del
ENST00000684555.1:c.*2200+68_*2200+70del	ENSP00000507705.1:n.*2200+68_*2200+70del
ENST00000684571.1:c.3829+68_3829+70del	ENSP00000506935.1:n.3829+68_3829+70del
ENST00000684593.1:c.*3693+68_*3693+70del	ENSP00000507005.1:n.*3693+68_*3693+70del
ENST00000684711.1:c.*2384+68_*2384+70del	ENSP00000506841.1:n.*2384+68_*2384+70del
ENST00000302539.9:c.3991+68_3991+70del	ENSP00000303960.4:n.3991+68_3991+70del
ENST00000389817.8:c.3988+68_3988+70del MANE Select	ENSP00000374467.4:n.3988+68_3988+70del
ENST00000642271.1:c.3985+68_3985+70del	ENSP00000493749.1:n.3985+68_3985+70del
ENST00000642579.1:c.2072+68_2072+70del
ENST00000642611.1:n.4010_4012del
ENST00000642902.1:c.3770+68_3770+70del
ENST00000643260.1:c.3988+68_3988+70del	ENSP00000494450.1:n.3988+68_3988+70del
ENST00000643562.1:c.*2032_*2034del	ENSP00000496124.1:n.*2032_*2034del
ENST00000643925.1:c.2550_2552del
ENST00000644484.1:c.*2311_*2313del	ENSP00000493558.1:n.*2311_*2313del
ENST00000644675.1:c.*2160+68_*2160+70del	ENSP00000494567.1:n.*2160+68_*2160+70del
ENST00000644757.1:c.*2341_*2343del	ENSP00000495085.1:n.*2341_*2343del
ENST00000644772.1:c.4054+68_4054+70del	ENSP00000494321.1:n.4054+68_4054+70del
ENST00000645004.1:n.1565_1567del
ENST00000645076.1:c.3187+68_3187+70del
ENST00000645417.1:c.1176+68_1176+70del
ENST00000645744.1:c.*2690_*2692del	ENSP00000494564.1:n.*2690_*2692del
ENST00000645760.1:c.4331_4333del
ENST00000645884.1:c.*1193_*1195del	ENSP00000495516.1:n.*1193_*1195del
ENST00000646003.1:c.*2012_*2014del	ENSP00000495259.1:n.*2012_*2014del
ENST00000646207.1:c.*2825+68_*2825+70del	ENSP00000495025.1:n.*2825+68_*2825+70del
ENST00000646276.1:c.*2329_*2331del	ENSP00000496070.1:n.*2329_*2331del
ENST00000646592.1:c.3294+68_3294+70del
ENST00000646902.1:c.3985+68_3985+70del	ENSP00000494101.1:n.3985+68_3985+70del
ENST00000646993.1:c.*2452_*2454del	ENSP00000493720.1:n.*2452_*2454del
ENST00000647013.1:c.3994+68_3994+70del	ENSP00000496741.1:n.3994+68_3994+70del
ENST00000647015.1:c.3739+68_3739+70del	ENSP00000495389.1:n.3739+68_3739+70del
ENST00000647086.1:c.*3604+68_*3604+70del	ENSP00000493677.1:n.*3604+68_*3604+70del
ENST00000647158.1:c.*2197_*2199del	ENSP00000495744.1:n.*2197_*2199del
ENST00000302539.8:c.3991+68_3991+70del	ENSP00000303960.4:n.3991+68_3991+70del
ENST00000389817.7:c.3988+68_3988+70del	ENSP00000374467.3:n.3988+68_3988+70del
ENST00000527905.5:c.*932_*934del	ENSP00000431653.1:n.*932_*934del
ENST00000528374.1:c.459-67_459-65del
ENST00000531137.1:n.475_477del
ENST00000531891.1:c.356+68_356+70del
ENST00000532220.1:n.384_386del
NM_000352.4:c.3988+68_3988+70del	NP_000343.2:n.3988+68_3988+70del
NM_001287174.1:c.3991+68_3991+70del	NP_001274103.1:n.3991+68_3991+70del
XM_011520331.1:c.3988+68_3988+70del	XP_011518633.1:n.3988+68_3988+70del
XM_011520332.1:c.3991+68_3991+70del	XP_011518634.1:n.3991+68_3991+70del
XM_011520333.1:c.2488+68_2488+70del	XP_011518635.1:n.2488+68_2488+70del
XR_930890.1:n.4054+68_4054+70del
NM_001351295.1:c.4054+68_4054+70del	NP_001338224.1:n.4054+68_4054+70del
NM_001351296.1:c.3988+68_3988+70del	NP_001338225.1:n.3988+68_3988+70del
NM_001351297.1:c.3985+68_3985+70del	NP_001338226.1:n.3985+68_3985+70del
NR_147094.1:n.4205_4207del
XM_017018197.2:c.4057+68_4057+70del	XP_016873686.1:n.4057+68_4057+70del
XM_017018199.1:c.4054+68_4054+70del	XP_016873688.1:n.4054+68_4054+70del
XM_017018201.2:c.4057+68_4057+70del	XP_016873690.1:n.4057+68_4057+70del
XM_017018202.1:c.2554+68_2554+70del	XP_016873691.1:n.2554+68_2554+70del
XM_017018204.1:c.1945+68_1945+70del	XP_016873693.1:n.1945+68_1945+70del
XM_024448668.1:c.2356+68_2356+70del	XP_024304436.1:n.2356+68_2356+70del
XR_001747945.2:n.4129+68_4129+70del
XR_001747946.2:n.4060+68_4060+70del
XR_002957189.1:n.4647_4649del
NM_000352.6:c.3988+68_3988+70del MANE Select	NP_000343.2:n.3988+68_3988+70del
NM_001287174.2:c.3991+68_3991+70del	NP_001274103.1:n.3991+68_3991+70del
NM_001351295.2:c.4054+68_4054+70del	NP_001338224.1:n.4054+68_4054+70del
NM_001351296.2:c.3988+68_3988+70del	NP_001338225.1:n.3988+68_3988+70del
NM_001351297.2:c.3985+68_3985+70del	NP_001338226.1:n.3985+68_3985+70del
NR_147094.2:n.4205_4207del
NM_001287174.3:c.3991+68_3991+70del	NP_001274103.1:n.3991+68_3991+70del