Canonical Allele Identifier: CA1955121992

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393109A= , CM000673.2:g.17393109A=	GRCh38
NC_000011.9:g.17414656A= , CM000673.1:g.17414656A=	GRCh37
NC_000011.8:g.17371232A=	NCBI36
NG_008867.1:g.88794T=
NG_012446.1:g.551T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4229T=
ENST00000526037.6:n.563T=
ENST00000528374.2:c.1219T=
ENST00000529967.6:n.2967T=
ENST00000532220.2:n.3861T=
ENST00000642611.2:n.5961T=
ENST00000644057.2:n.1204T=
ENST00000645004.2:n.2127T=
ENST00000682051.1:n.4790T=
ENST00000682110.1:n.4843T=
ENST00000682140.1:c.*414T=	ENSP00000507829.1:n.*414T=
ENST00000682185.1:n.5933T=
ENST00000682204.1:c.*2766T=	ENSP00000507094.1:n.*2766T=
ENST00000682215.1:n.5210T=
ENST00000682288.1:c.*3059T=	ENSP00000507506.1:n.*3059T=
ENST00000682442.1:n.5063T=
ENST00000682528.1:n.4920T=
ENST00000682673.1:n.4787T=
ENST00000682805.1:n.5248T=
ENST00000682965.1:c.*1050T=	ENSP00000508229.1:n.*1050T=
ENST00000683093.1:n.5823T=
ENST00000683136.1:c.4511T=	ENSP00000507768.1:p.Leu1504=
ENST00000683153.1:n.4885T=
ENST00000683365.1:n.4945T=
ENST00000683377.1:n.4739T=
ENST00000683456.1:c.*1765T=	ENSP00000508318.1:n.*1765T=
ENST00000683522.1:n.4925T=
ENST00000683562.1:c.*2693T=	ENSP00000508265.1:n.*2693T=
ENST00000683693.1:n.6304T=
ENST00000683725.1:c.*93T=	ENSP00000507496.1:n.*93T=
ENST00000684010.1:n.4838T=
ENST00000684014.1:n.815T=
ENST00000684157.1:n.5828T=
ENST00000684253.1:n.4746T=
ENST00000684288.1:c.*2800T=	ENSP00000507143.1:n.*2800T=
ENST00000684313.1:n.4275T=
ENST00000684332.1:n.4916T=
ENST00000684371.1:n.4949T=
ENST00000684404.1:n.5871T=
ENST00000684442.1:n.5067T=
ENST00000684555.1:c.*2840T=	ENSP00000507705.1:n.*2840T=
ENST00000684571.1:c.4469T=	ENSP00000506935.1:p.Leu1490=
ENST00000684593.1:c.*4333T=	ENSP00000507005.1:n.*4333T=
ENST00000684711.1:c.*3024T=	ENSP00000506841.1:n.*3024T=
ENST00000302539.9:c.4631T=	ENSP00000303960.4:p.Leu1544=
ENST00000389817.8:c.4628T= MANE Select	ENSP00000374467.4:p.Leu1543=
ENST00000642271.1:c.4625T=	ENSP00000493749.1:p.Leu1542=
ENST00000642579.1:c.2682T=
ENST00000642611.1:n.5846T=
ENST00000642902.1:c.4410T=
ENST00000643260.1:c.4628T=	ENSP00000494450.1:p.Leu1543=
ENST00000643562.1:c.*2750T=	ENSP00000496124.1:n.*2750T=
ENST00000643925.1:c.3205T=
ENST00000644057.1:n.787T=
ENST00000644484.1:c.*4014T=	ENSP00000493558.1:n.*4014T=
ENST00000644675.1:c.*2800T=	ENSP00000494567.1:n.*2800T=
ENST00000644757.1:c.*3203-129T=	ENSP00000495085.1:n.*3203-129T=
ENST00000644772.1:c.4694T=	ENSP00000494321.1:p.Leu1565=
ENST00000645004.1:n.2321T=
ENST00000645076.1:c.3723T=
ENST00000645417.1:c.1816T=
ENST00000645744.1:c.*4313T=	ENSP00000494564.1:n.*4313T=
ENST00000645760.1:c.5049T=
ENST00000645884.1:c.*1911T=	ENSP00000495516.1:n.*1911T=
ENST00000646003.1:c.*2650T=	ENSP00000495259.1:n.*2650T=
ENST00000646207.1:c.*3465T=	ENSP00000495025.1:n.*3465T=
ENST00000646276.1:c.*4032T=	ENSP00000496070.1:n.*4032T=
ENST00000646592.1:c.3934T=
ENST00000646902.1:c.4595T=	ENSP00000494101.1:p.Leu1532=
ENST00000646993.1:c.*3066T=	ENSP00000493720.1:n.*3066T=
ENST00000647015.1:c.4379T=	ENSP00000495389.1:p.Leu1460=
ENST00000647086.1:c.*4214T=	ENSP00000493677.1:n.*4214T=
ENST00000647158.1:c.*2915T=	ENSP00000495744.1:n.*2915T=
ENST00000302539.8:c.4631T=	ENSP00000303960.4:p.Leu1544=
ENST00000389817.7:c.4628T=	ENSP00000374467.3:p.Leu1543=
ENST00000525022.1:n.607T=
ENST00000526037.5:n.388T=
ENST00000526168.5:c.416T=
ENST00000531642.5:c.659T=
NM_000352.4:c.4628T=	NP_000343.2:p.Leu1543=
NM_001287174.1:c.4631T=	NP_001274103.1:p.Leu1544=
XM_011520331.1:c.4628T=	XP_011518633.1:p.Leu1543=
XM_011520333.1:c.3128T=	XP_011518635.1:p.Leu1043=
XR_930890.1:n.4590T=
NM_001351295.1:c.4694T=	NP_001338224.1:p.Leu1565=
NM_001351296.1:c.4628T=	NP_001338225.1:p.Leu1543=
NM_001351297.1:c.4625T=	NP_001338226.1:p.Leu1542=
NR_147094.1:n.4923T=
XM_017018197.2:c.4697T=	XP_016873686.1:p.Leu1566=
XM_017018199.1:c.4694T=	XP_016873688.1:p.Leu1565=
XM_017018202.1:c.3194T=	XP_016873691.1:p.Leu1065=
XM_017018204.1:c.2585T=	XP_016873693.1:p.Leu862=
XM_024448668.1:c.2996T=	XP_024304436.1:p.Leu999=
XR_001747945.2:n.4665T=
XR_001747946.2:n.4596T=
XR_002957189.1:n.6379T=
NM_000352.6:c.4628T= MANE Select	NP_000343.2:p.Leu1543=
NM_001287174.2:c.4631T=	NP_001274103.1:p.Leu1544=
NM_001351295.2:c.4694T=	NP_001338224.1:p.Leu1565=
NM_001351296.2:c.4628T=	NP_001338225.1:p.Leu1543=
NM_001351297.2:c.4625T=	NP_001338226.1:p.Leu1542=
NR_147094.2:n.4923T=
NM_001287174.3:c.4631T=	NP_001274103.1:p.Leu1544=