Canonical Allele Identifier: CA2612639437

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395911-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395912del , CM000673.2:g.17395912del	GRCh38
NC_000011.9:g.17417459del , CM000673.1:g.17417459del	GRCh37
NC_000011.8:g.17374035del	NCBI36
NG_008867.1:g.85991del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3739del
ENST00000528374.2:c.729del
ENST00000529967.6:n.2477del
ENST00000532220.2:n.3371del
ENST00000642611.2:n.5338del
ENST00000644057.2:n.581del
ENST00000645004.2:n.1637del
ENST00000682051.1:n.4300del
ENST00000682110.1:n.4353del
ENST00000682140.1:c.4004del	ENSP00000507829.1:p.His1335ProfsTer?
ENST00000682185.1:n.5443del
ENST00000682204.1:c.*2276del	ENSP00000507094.1:n.*2276del
ENST00000682215.1:n.4720del
ENST00000682288.1:c.*2569del	ENSP00000507506.1:n.*2569del
ENST00000682442.1:n.4573del
ENST00000682528.1:n.4430del
ENST00000682673.1:n.4297del
ENST00000682805.1:n.4758del
ENST00000682965.1:c.*560del	ENSP00000508229.1:n.*560del
ENST00000683093.1:n.5437del
ENST00000683136.1:c.4021del	ENSP00000507768.1:p.Thr1341ProfsTer?
ENST00000683153.1:n.4395del
ENST00000683365.1:n.4455del
ENST00000683377.1:n.4353del
ENST00000683456.1:c.*1275del	ENSP00000508318.1:n.*1275del
ENST00000683522.1:n.4353del
ENST00000683562.1:c.*2307del	ENSP00000508265.1:n.*2307del
ENST00000683693.1:n.5785del
ENST00000683725.1:c.4138del	ENSP00000507496.1:p.Thr1380ProfsTer?
ENST00000684010.1:n.4348del
ENST00000684157.1:n.5338del
ENST00000684253.1:n.4256del
ENST00000684288.1:c.*2310del	ENSP00000507143.1:n.*2310del
ENST00000684313.1:n.3785del
ENST00000684332.1:n.4426del
ENST00000684371.1:n.4459del
ENST00000684404.1:n.5381del
ENST00000684442.1:n.4577del
ENST00000684555.1:c.*2350del	ENSP00000507705.1:n.*2350del
ENST00000684571.1:c.3979del	ENSP00000506935.1:p.Thr1327ProfsTer?
ENST00000684593.1:c.*3843del	ENSP00000507005.1:n.*3843del
ENST00000684711.1:c.*2534del	ENSP00000506841.1:n.*2534del
ENST00000302539.9:c.4141del	ENSP00000303960.4:p.Thr1381ProfsTer?
ENST00000389817.8:c.4138del MANE Select	ENSP00000374467.4:p.Thr1380ProfsTer?
ENST00000642271.1:c.4135del	ENSP00000493749.1:p.Thr1379ProfsTer?
ENST00000642579.1:c.2192del
ENST00000642611.1:n.5223del
ENST00000642902.1:c.3920del
ENST00000643260.1:c.4138del	ENSP00000494450.1:p.Thr1380ProfsTer?
ENST00000643562.1:c.*2260del	ENSP00000496124.1:n.*2260del
ENST00000643925.1:c.2778del
ENST00000644057.1:n.215del
ENST00000644484.1:c.*3524del	ENSP00000493558.1:n.*3524del
ENST00000644675.1:c.*2310del	ENSP00000494567.1:n.*2310del
ENST00000644757.1:c.*3202+352del	ENSP00000495085.1:n.*3202+352del
ENST00000644772.1:c.4204del	ENSP00000494321.1:p.Thr1402ProfsTer?
ENST00000645004.1:n.1831del
ENST00000645076.1:c.3337del
ENST00000645417.1:c.1326del
ENST00000645744.1:c.*3903del	ENSP00000494564.1:n.*3903del
ENST00000645760.1:c.4559del
ENST00000645884.1:c.*1421del	ENSP00000495516.1:n.*1421del
ENST00000646003.1:c.*2240del	ENSP00000495259.1:n.*2240del
ENST00000646207.1:c.*2975del	ENSP00000495025.1:n.*2975del
ENST00000646276.1:c.*3542del	ENSP00000496070.1:n.*3542del
ENST00000646592.1:c.3444del
ENST00000646902.1:c.4105del	ENSP00000494101.1:p.Thr1369ProfsTer?
ENST00000646993.1:c.*2680del	ENSP00000493720.1:n.*2680del
ENST00000647013.1:c.4144del	ENSP00000496741.1:n.4144del
ENST00000647015.1:c.3889del	ENSP00000495389.1:p.Thr1297ProfsTer?
ENST00000647086.1:c.*3724del	ENSP00000493677.1:n.*3724del
ENST00000647158.1:c.*2425del	ENSP00000495744.1:n.*2425del
ENST00000302539.8:c.4141del	ENSP00000303960.4:p.Thr1381ProfsTer?
ENST00000389817.7:c.4138del	ENSP00000374467.3:p.Thr1380ProfsTer?
ENST00000525022.1:n.4del
ENST00000526168.5:c.6del
NM_000352.4:c.4138del	NP_000343.2:p.Thr1380ProfsTer?
NM_001287174.1:c.4141del	NP_001274103.1:p.Thr1381ProfsTer?
XM_011520331.1:c.4138del	XP_011518633.1:p.Thr1380ProfsTer?
XM_011520332.1:c.4141del	XP_011518634.1:p.Thr1381ProfsTer?
XM_011520333.1:c.2638del	XP_011518635.1:p.Thr880ProfsTer?
XR_930890.1:n.4204del
NM_001351295.1:c.4204del	NP_001338224.1:p.Thr1402ProfsTer?
NM_001351296.1:c.4138del	NP_001338225.1:p.Thr1380ProfsTer?
NM_001351297.1:c.4135del	NP_001338226.1:p.Thr1379ProfsTer?
NR_147094.1:n.4433del
XM_017018197.2:c.4207del	XP_016873686.1:p.Thr1403ProfsTer?
XM_017018199.1:c.4204del	XP_016873688.1:p.Thr1402ProfsTer?
XM_017018201.2:c.4207del	XP_016873690.1:p.Thr1403ProfsTer?
XM_017018202.1:c.2704del	XP_016873691.1:p.Thr902ProfsTer?
XM_017018204.1:c.2095del	XP_016873693.1:p.Thr699ProfsTer?
XM_024448668.1:c.2506del	XP_024304436.1:p.Thr836ProfsTer?
XR_001747945.2:n.4279del
XR_001747946.2:n.4210del
XR_002957189.1:n.5860del
NM_000352.6:c.4138del MANE Select	NP_000343.2:p.Thr1380ProfsTer?
NM_001287174.2:c.4141del	NP_001274103.1:p.Thr1381ProfsTer?
NM_001351295.2:c.4204del	NP_001338224.1:p.Thr1402ProfsTer?
NM_001351296.2:c.4138del	NP_001338225.1:p.Thr1380ProfsTer?
NM_001351297.2:c.4135del	NP_001338226.1:p.Thr1379ProfsTer?
NR_147094.2:n.4433del
NM_001287174.3:c.4141del	NP_001274103.1:p.Thr1381ProfsTer?