Canonical Allele Identifier: CA2612639452

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395912-TGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395914_17395915del , CM000673.2:g.17395914_17395915del	GRCh38
NC_000011.9:g.17417461_17417462del , CM000673.1:g.17417461_17417462del	GRCh37
NC_000011.8:g.17374037_17374038del	NCBI36
NG_008867.1:g.85989_85990del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3737_3738del
ENST00000528374.2:c.727_728del
ENST00000529967.6:n.2475_2476del
ENST00000532220.2:n.3369_3370del
ENST00000642611.2:n.5336_5337del
ENST00000644057.2:n.579_580del
ENST00000645004.2:n.1635_1636del
ENST00000682051.1:n.4298_4299del
ENST00000682110.1:n.4351_4352del
ENST00000682140.1:c.4002_4003del	ENSP00000507829.1:p.His1335ProfsTer?
ENST00000682185.1:n.5441_5442del
ENST00000682204.1:c.*2274_*2275del	ENSP00000507094.1:n.*2274_*2275del
ENST00000682215.1:n.4718_4719del
ENST00000682288.1:c.*2567_*2568del	ENSP00000507506.1:n.*2567_*2568del
ENST00000682442.1:n.4571_4572del
ENST00000682528.1:n.4428_4429del
ENST00000682673.1:n.4295_4296del
ENST00000682805.1:n.4756_4757del
ENST00000682965.1:c.*558_*559del	ENSP00000508229.1:n.*558_*559del
ENST00000683093.1:n.5435_5436del
ENST00000683136.1:c.4019_4020del	ENSP00000507768.1:p.Arg1340HisfsTer26
ENST00000683153.1:n.4393_4394del
ENST00000683365.1:n.4453_4454del
ENST00000683377.1:n.4351_4352del
ENST00000683456.1:c.*1273_*1274del	ENSP00000508318.1:n.*1273_*1274del
ENST00000683522.1:n.4351_4352del
ENST00000683562.1:c.*2305_*2306del	ENSP00000508265.1:n.*2305_*2306del
ENST00000683693.1:n.5783_5784del
ENST00000683725.1:c.4136_4137del	ENSP00000507496.1:p.Arg1379HisfsTer26
ENST00000684010.1:n.4346_4347del
ENST00000684157.1:n.5336_5337del
ENST00000684253.1:n.4254_4255del
ENST00000684288.1:c.*2308_*2309del	ENSP00000507143.1:n.*2308_*2309del
ENST00000684313.1:n.3783_3784del
ENST00000684332.1:n.4424_4425del
ENST00000684371.1:n.4457_4458del
ENST00000684404.1:n.5379_5380del
ENST00000684442.1:n.4575_4576del
ENST00000684555.1:c.*2348_*2349del	ENSP00000507705.1:n.*2348_*2349del
ENST00000684571.1:c.3977_3978del	ENSP00000506935.1:p.Arg1326HisfsTer26
ENST00000684593.1:c.*3841_*3842del	ENSP00000507005.1:n.*3841_*3842del
ENST00000684711.1:c.*2532_*2533del	ENSP00000506841.1:n.*2532_*2533del
ENST00000302539.9:c.4139_4140del	ENSP00000303960.4:p.Arg1380HisfsTer26
ENST00000389817.8:c.4136_4137del MANE Select	ENSP00000374467.4:p.Arg1379HisfsTer26
ENST00000642271.1:c.4133_4134del	ENSP00000493749.1:p.Arg1378HisfsTer26
ENST00000642579.1:c.2190_2191del
ENST00000642611.1:n.5221_5222del
ENST00000642902.1:c.3918_3919del
ENST00000643260.1:c.4136_4137del	ENSP00000494450.1:p.Arg1379HisfsTer26
ENST00000643562.1:c.*2258_*2259del	ENSP00000496124.1:n.*2258_*2259del
ENST00000643925.1:c.2776_2777del
ENST00000644057.1:n.213_214del
ENST00000644484.1:c.*3522_*3523del	ENSP00000493558.1:n.*3522_*3523del
ENST00000644675.1:c.*2308_*2309del	ENSP00000494567.1:n.*2308_*2309del
ENST00000644757.1:c.*3202+350_*3202+351del	ENSP00000495085.1:n.*3202+350_*3202+351del
ENST00000644772.1:c.4202_4203del	ENSP00000494321.1:p.Arg1401HisfsTer26
ENST00000645004.1:n.1829_1830del
ENST00000645076.1:c.3335_3336del
ENST00000645417.1:c.1324_1325del
ENST00000645744.1:c.*3901_*3902del	ENSP00000494564.1:n.*3901_*3902del
ENST00000645760.1:c.4557_4558del
ENST00000645884.1:c.*1419_*1420del	ENSP00000495516.1:n.*1419_*1420del
ENST00000646003.1:c.*2238_*2239del	ENSP00000495259.1:n.*2238_*2239del
ENST00000646207.1:c.*2973_*2974del	ENSP00000495025.1:n.*2973_*2974del
ENST00000646276.1:c.*3540_*3541del	ENSP00000496070.1:n.*3540_*3541del
ENST00000646592.1:c.3442_3443del
ENST00000646902.1:c.4103_4104del	ENSP00000494101.1:p.Arg1368HisfsTer26
ENST00000646993.1:c.*2678_*2679del	ENSP00000493720.1:n.*2678_*2679del
ENST00000647013.1:c.4142_4143del	ENSP00000496741.1:n.4142_4143del
ENST00000647015.1:c.3887_3888del	ENSP00000495389.1:p.Arg1296HisfsTer26
ENST00000647086.1:c.*3722_*3723del	ENSP00000493677.1:n.*3722_*3723del
ENST00000647158.1:c.*2423_*2424del	ENSP00000495744.1:n.*2423_*2424del
ENST00000302539.8:c.4139_4140del	ENSP00000303960.4:p.Arg1380HisfsTer26
ENST00000389817.7:c.4136_4137del	ENSP00000374467.3:p.Arg1379HisfsTer26
ENST00000525022.1:n.2_3del
ENST00000526168.5:c.4_5del
ENST00000532220.1:n.610_611del
NM_000352.4:c.4136_4137del	NP_000343.2:p.Arg1379HisfsTer26
NM_001287174.1:c.4139_4140del	NP_001274103.1:p.Arg1380HisfsTer26
XM_011520331.1:c.4136_4137del	XP_011518633.1:p.Arg1379HisfsTer26
XM_011520332.1:c.4139_4140del	XP_011518634.1:p.Arg1380HisfsTer26
XM_011520333.1:c.2636_2637del	XP_011518635.1:p.Arg879HisfsTer26
XR_930890.1:n.4202_4203del
NM_001351295.1:c.4202_4203del	NP_001338224.1:p.Arg1401HisfsTer26
NM_001351296.1:c.4136_4137del	NP_001338225.1:p.Arg1379HisfsTer26
NM_001351297.1:c.4133_4134del	NP_001338226.1:p.Arg1378HisfsTer26
NR_147094.1:n.4431_4432del
XM_017018197.2:c.4205_4206del	XP_016873686.1:p.Arg1402HisfsTer26
XM_017018199.1:c.4202_4203del	XP_016873688.1:p.Arg1401HisfsTer26
XM_017018201.2:c.4205_4206del	XP_016873690.1:p.Arg1402HisfsTer26
XM_017018202.1:c.2702_2703del	XP_016873691.1:p.Arg901HisfsTer26
XM_017018204.1:c.2093_2094del	XP_016873693.1:p.Arg698HisfsTer26
XM_024448668.1:c.2504_2505del	XP_024304436.1:p.Arg835HisfsTer26
XR_001747945.2:n.4277_4278del
XR_001747946.2:n.4208_4209del
XR_002957189.1:n.5858_5859del
NM_000352.6:c.4136_4137del MANE Select	NP_000343.2:p.Arg1379HisfsTer26
NM_001287174.2:c.4139_4140del	NP_001274103.1:p.Arg1380HisfsTer26
NM_001351295.2:c.4202_4203del	NP_001338224.1:p.Arg1401HisfsTer26
NM_001351296.2:c.4136_4137del	NP_001338225.1:p.Arg1379HisfsTer26
NM_001351297.2:c.4133_4134del	NP_001338226.1:p.Arg1378HisfsTer26
NR_147094.2:n.4431_4432del
NM_001287174.3:c.4139_4140del	NP_001274103.1:p.Arg1380HisfsTer26