Canonical Allele Identifier: CA1955123986

Gene: ABCC8

Linked Data

• dbSNP Id: rs1953973430
• gnomAD v4: 11-17397107-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397111del , CM000673.2:g.17397111del	GRCh38
NC_000011.9:g.17418658del , CM000673.1:g.17418658del	GRCh37
NC_000011.8:g.17375234del	NCBI36
NG_008867.1:g.84795del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3528del
ENST00000528374.2:c.568-50del
ENST00000529967.6:n.2328-62del
ENST00000532220.2:n.2175del
ENST00000642611.2:n.4142del
ENST00000644057.2:n.432-62del
ENST00000645004.2:n.1488-62del
ENST00000682051.1:n.4089del
ENST00000682110.1:n.4142del
ENST00000682140.1:c.3985+85del	ENSP00000507829.1:n.3985+85del
ENST00000682185.1:n.5294-62del
ENST00000682204.1:c.*2127-62del	ENSP00000507094.1:n.*2127-62del
ENST00000682215.1:n.4509del
ENST00000682288.1:c.*2420-62del	ENSP00000507506.1:n.*2420-62del
ENST00000682442.1:n.4362del
ENST00000682528.1:n.4219del
ENST00000682673.1:n.4086del
ENST00000682805.1:n.4509del
ENST00000682965.1:c.*411-62del	ENSP00000508229.1:n.*411-62del
ENST00000683093.1:n.4241del
ENST00000683136.1:c.3872-62del	ENSP00000507768.1:n.3872-62del
ENST00000683153.1:n.4184del
ENST00000683365.1:n.4244del
ENST00000683377.1:n.4142del
ENST00000683456.1:c.*1126-62del	ENSP00000508318.1:n.*1126-62del
ENST00000683522.1:n.4142del
ENST00000683562.1:c.*2158-62del	ENSP00000508265.1:n.*2158-62del
ENST00000683693.1:n.4589del
ENST00000683725.1:c.3989-62del	ENSP00000507496.1:n.3989-62del
ENST00000684010.1:n.4137del
ENST00000684157.1:n.4142del
ENST00000684253.1:n.4045del
ENST00000684288.1:c.*2161-62del	ENSP00000507143.1:n.*2161-62del
ENST00000684313.1:n.3574del
ENST00000684332.1:n.4215del
ENST00000684371.1:n.4248del
ENST00000684404.1:n.4185del
ENST00000684442.1:n.4428-62del
ENST00000684555.1:c.*2201-62del	ENSP00000507705.1:n.*2201-62del
ENST00000684571.1:c.3830-62del	ENSP00000506935.1:n.3830-62del
ENST00000684593.1:c.*3694-62del	ENSP00000507005.1:n.*3694-62del
ENST00000684711.1:c.*2385-62del	ENSP00000506841.1:n.*2385-62del
ENST00000302539.9:c.3992-62del	ENSP00000303960.4:n.3992-62del
ENST00000389817.8:c.3989-62del MANE Select	ENSP00000374467.4:n.3989-62del
ENST00000642271.1:c.3986-62del	ENSP00000493749.1:n.3986-62del
ENST00000642579.1:c.2072+85del
ENST00000642611.1:n.4027del
ENST00000642902.1:c.3771-62del
ENST00000643260.1:c.3989-62del	ENSP00000494450.1:n.3989-62del
ENST00000643562.1:c.*2049del	ENSP00000496124.1:n.*2049del
ENST00000643925.1:c.2567del
ENST00000644057.1:n.4del
ENST00000644484.1:c.*2328del	ENSP00000493558.1:n.*2328del
ENST00000644675.1:c.*2161-62del	ENSP00000494567.1:n.*2161-62del
ENST00000644757.1:c.*2358del	ENSP00000495085.1:n.*2358del
ENST00000644772.1:c.4055-62del	ENSP00000494321.1:n.4055-62del
ENST00000645004.1:n.1582del
ENST00000645076.1:c.3188-62del
ENST00000645417.1:c.1177-62del
ENST00000645744.1:c.*2707del	ENSP00000494564.1:n.*2707del
ENST00000645760.1:c.4348del
ENST00000645884.1:c.*1210del	ENSP00000495516.1:n.*1210del
ENST00000646003.1:c.*2029del	ENSP00000495259.1:n.*2029del
ENST00000646207.1:c.*2826-62del	ENSP00000495025.1:n.*2826-62del
ENST00000646276.1:c.*2346del	ENSP00000496070.1:n.*2346del
ENST00000646592.1:c.3295-62del
ENST00000646902.1:c.3985+85del	ENSP00000494101.1:n.3985+85del
ENST00000646993.1:c.*2469del	ENSP00000493720.1:n.*2469del
ENST00000647013.1:c.3995-62del	ENSP00000496741.1:n.3995-62del
ENST00000647015.1:c.3740-62del	ENSP00000495389.1:n.3740-62del
ENST00000647086.1:c.*3604+85del	ENSP00000493677.1:n.*3604+85del
ENST00000647158.1:c.*2214del	ENSP00000495744.1:n.*2214del
ENST00000302539.8:c.3992-62del	ENSP00000303960.4:n.3992-62del
ENST00000389817.7:c.3989-62del	ENSP00000374467.3:n.3989-62del
ENST00000527905.5:c.*949del	ENSP00000431653.1:n.*949del
ENST00000528374.1:c.459-50del
ENST00000531137.1:n.492del
ENST00000531891.1:c.356+85del
ENST00000532220.1:n.401del
NM_000352.4:c.3989-62del	NP_000343.2:n.3989-62del
NM_001287174.1:c.3992-62del	NP_001274103.1:n.3992-62del
XM_011520331.1:c.3989-62del	XP_011518633.1:n.3989-62del
XM_011520332.1:c.3992-62del	XP_011518634.1:n.3992-62del
XM_011520333.1:c.2489-62del	XP_011518635.1:n.2489-62del
XR_930890.1:n.4055-62del
NM_001351295.1:c.4055-62del	NP_001338224.1:n.4055-62del
NM_001351296.1:c.3989-62del	NP_001338225.1:n.3989-62del
NM_001351297.1:c.3986-62del	NP_001338226.1:n.3986-62del
NR_147094.1:n.4222del
XM_017018197.2:c.4058-62del	XP_016873686.1:n.4058-62del
XM_017018199.1:c.4055-62del	XP_016873688.1:n.4055-62del
XM_017018201.2:c.4058-62del	XP_016873690.1:n.4058-62del
XM_017018202.1:c.2555-62del	XP_016873691.1:n.2555-62del
XM_017018204.1:c.1946-62del	XP_016873693.1:n.1946-62del
XM_024448668.1:c.2357-62del	XP_024304436.1:n.2357-62del
XR_001747945.2:n.4130-62del
XR_001747946.2:n.4061-62del
XR_002957189.1:n.4664del
NM_000352.6:c.3989-62del MANE Select	NP_000343.2:n.3989-62del
NM_001287174.2:c.3992-62del	NP_001274103.1:n.3992-62del
NM_001351295.2:c.4055-62del	NP_001338224.1:n.4055-62del
NM_001351296.2:c.3989-62del	NP_001338225.1:n.3989-62del
NM_001351297.2:c.3986-62del	NP_001338226.1:n.3986-62del
NR_147094.2:n.4222del
NM_001287174.3:c.3992-62del	NP_001274103.1:n.3992-62del