Canonical Allele Identifier: CA1955122974

Gene: ABCC8

Linked Data

• dbSNP Id: rs1953845407
• gnomAD v4: 11-17395198-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395200dup , CM000673.2:g.17395200dup	GRCh38
NC_000011.9:g.17416747dup , CM000673.1:g.17416747dup	GRCh37
NC_000011.8:g.17373323dup	NCBI36
NG_008867.1:g.86704dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3985dup
ENST00000526037.6:n.319dup
ENST00000528374.2:c.975dup
ENST00000529967.6:n.2723dup
ENST00000532220.2:n.3617dup
ENST00000642611.2:n.5717dup
ENST00000644057.2:n.960dup
ENST00000645004.2:n.1883dup
ENST00000682051.1:n.4546dup
ENST00000682110.1:n.4599dup
ENST00000682140.1:c.*170dup	ENSP00000507829.1:n.*170dup
ENST00000682185.1:n.5689dup
ENST00000682204.1:c.*2522dup	ENSP00000507094.1:n.*2522dup
ENST00000682215.1:n.4966dup
ENST00000682288.1:c.*2815dup	ENSP00000507506.1:n.*2815dup
ENST00000682442.1:n.4819dup
ENST00000682528.1:n.4676dup
ENST00000682673.1:n.4543dup
ENST00000682805.1:n.5004dup
ENST00000682965.1:c.*806dup	ENSP00000508229.1:n.*806dup
ENST00000683093.1:n.5606+411dup
ENST00000683136.1:c.4267dup	ENSP00000507768.1:p.Val1423GlyfsTer?
ENST00000683153.1:n.4641dup
ENST00000683365.1:n.4701dup
ENST00000683377.1:n.4522+411dup
ENST00000683456.1:c.*1521dup	ENSP00000508318.1:n.*1521dup
ENST00000683522.1:n.4599dup
ENST00000683562.1:c.*2476+411dup	ENSP00000508265.1:n.*2476+411dup
ENST00000683693.1:n.6087+411dup
ENST00000683725.1:c.4307+411dup	ENSP00000507496.1:n.4307+411dup
ENST00000684010.1:n.4594dup
ENST00000684157.1:n.5584dup
ENST00000684253.1:n.4502dup
ENST00000684288.1:c.*2556dup	ENSP00000507143.1:n.*2556dup
ENST00000684313.1:n.4031dup
ENST00000684332.1:n.4672dup
ENST00000684371.1:n.4705dup
ENST00000684404.1:n.5627dup
ENST00000684442.1:n.4823dup
ENST00000684555.1:c.*2596dup	ENSP00000507705.1:n.*2596dup
ENST00000684571.1:c.4225dup	ENSP00000506935.1:p.Val1409GlyfsTer?
ENST00000684593.1:c.*4089dup	ENSP00000507005.1:n.*4089dup
ENST00000684711.1:c.*2780dup	ENSP00000506841.1:n.*2780dup
ENST00000302539.9:c.4387dup	ENSP00000303960.4:p.Val1463GlyfsTer?
ENST00000389817.8:c.4384dup MANE Select	ENSP00000374467.4:p.Val1462GlyfsTer?
ENST00000642271.1:c.4381dup	ENSP00000493749.1:p.Val1461GlyfsTer?
ENST00000642579.1:c.2438dup
ENST00000642611.1:n.5602dup
ENST00000642902.1:c.4166dup
ENST00000643260.1:c.4384dup	ENSP00000494450.1:p.Val1462GlyfsTer?
ENST00000643562.1:c.*2506dup	ENSP00000496124.1:n.*2506dup
ENST00000643925.1:c.3024dup
ENST00000644057.1:n.461dup
ENST00000644484.1:c.*3770dup	ENSP00000493558.1:n.*3770dup
ENST00000644675.1:c.*2556dup	ENSP00000494567.1:n.*2556dup
ENST00000644757.1:c.*3202+1065dup	ENSP00000495085.1:n.*3202+1065dup
ENST00000644772.1:c.4450dup	ENSP00000494321.1:p.Val1484GlyfsTer?
ENST00000645004.1:n.2077dup
ENST00000645076.1:c.3506+411dup
ENST00000645417.1:c.1572dup
ENST00000645744.1:c.*4069dup	ENSP00000494564.1:n.*4069dup
ENST00000645760.1:c.4805dup
ENST00000645884.1:c.*1667dup	ENSP00000495516.1:n.*1667dup
ENST00000646003.1:c.*2406dup	ENSP00000495259.1:n.*2406dup
ENST00000646207.1:c.*3221dup	ENSP00000495025.1:n.*3221dup
ENST00000646276.1:c.*3788dup	ENSP00000496070.1:n.*3788dup
ENST00000646592.1:c.3690dup
ENST00000646902.1:c.4351dup	ENSP00000494101.1:p.Val1451GlyfsTer?
ENST00000646993.1:c.*2849+411dup	ENSP00000493720.1:n.*2849+411dup
ENST00000647013.1:c.4390dup	ENSP00000496741.1:n.4390dup
ENST00000647015.1:c.4135dup	ENSP00000495389.1:p.Val1379GlyfsTer?
ENST00000647086.1:c.*3970dup	ENSP00000493677.1:n.*3970dup
ENST00000647158.1:c.*2671dup	ENSP00000495744.1:n.*2671dup
ENST00000302539.8:c.4387dup	ENSP00000303960.4:p.Val1463GlyfsTer?
ENST00000389817.7:c.4384dup	ENSP00000374467.3:p.Val1462GlyfsTer?
ENST00000525022.1:n.306+411dup
ENST00000526037.5:n.171+411dup
ENST00000526168.5:c.172dup
ENST00000531642.5:c.415dup
NM_000352.4:c.4384dup	NP_000343.2:p.Val1462GlyfsTer?
NM_001287174.1:c.4387dup	NP_001274103.1:p.Val1463GlyfsTer?
XM_011520331.1:c.4384dup	XP_011518633.1:p.Val1462GlyfsTer?
XM_011520332.1:c.4310+411dup	XP_011518634.1:n.4310+411dup
XM_011520333.1:c.2884dup	XP_011518635.1:p.Val962GlyfsTer?
XR_930890.1:n.4373+411dup
NM_001351295.1:c.4450dup	NP_001338224.1:p.Val1484GlyfsTer?
NM_001351296.1:c.4384dup	NP_001338225.1:p.Val1462GlyfsTer?
NM_001351297.1:c.4381dup	NP_001338226.1:p.Val1461GlyfsTer?
NR_147094.1:n.4679dup
XM_017018197.2:c.4453dup	XP_016873686.1:p.Val1485GlyfsTer?
XM_017018199.1:c.4450dup	XP_016873688.1:p.Val1484GlyfsTer?
XM_017018201.2:c.4376+411dup	XP_016873690.1:n.4376+411dup
XM_017018202.1:c.2950dup	XP_016873691.1:p.Val984GlyfsTer?
XM_017018204.1:c.2341dup	XP_016873693.1:p.Val781GlyfsTer?
XM_024448668.1:c.2752dup	XP_024304436.1:p.Val918GlyfsTer?
XR_001747945.2:n.4448+411dup
XR_001747946.2:n.4379+411dup
XR_002957189.1:n.6162+411dup
NM_000352.6:c.4384dup MANE Select	NP_000343.2:p.Val1462GlyfsTer?
NM_001287174.2:c.4387dup	NP_001274103.1:p.Val1463GlyfsTer?
NM_001351295.2:c.4450dup	NP_001338224.1:p.Val1484GlyfsTer?
NM_001351296.2:c.4384dup	NP_001338225.1:p.Val1462GlyfsTer?
NM_001351297.2:c.4381dup	NP_001338226.1:p.Val1461GlyfsTer?
NR_147094.2:n.4679dup
NM_001287174.3:c.4387dup	NP_001274103.1:p.Val1463GlyfsTer?