Canonical Allele Identifier: CA1955122313

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393756T= , CM000673.2:g.17393756T=	GRCh38
NC_000011.9:g.17415303T= , CM000673.1:g.17415303T=	GRCh37
NC_000011.8:g.17371879T=	NCBI36
NG_008867.1:g.88147A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.4150A=
ENST00000526037.6:n.484A=
ENST00000528374.2:c.1140A=
ENST00000529967.6:n.2888A=
ENST00000532220.2:n.3782A=
ENST00000642611.2:n.5882A=
ENST00000644057.2:n.1125A=
ENST00000645004.2:n.2048A=
ENST00000682051.1:n.4711A=
ENST00000682110.1:n.4764A=
ENST00000682140.1:c.*335A=	ENSP00000507829.1:n.*335A=
ENST00000682185.1:n.5854A=
ENST00000682204.1:c.*2687A=	ENSP00000507094.1:n.*2687A=
ENST00000682215.1:n.5131A=
ENST00000682288.1:c.*2980A=	ENSP00000507506.1:n.*2980A=
ENST00000682442.1:n.4984A=
ENST00000682528.1:n.4841A=
ENST00000682673.1:n.4708A=
ENST00000682805.1:n.5169A=
ENST00000682965.1:c.*971A=	ENSP00000508229.1:n.*971A=
ENST00000683093.1:n.5744A=
ENST00000683136.1:c.4432A=	ENSP00000507768.1:p.Asn1478=
ENST00000683153.1:n.4806A=
ENST00000683365.1:n.4866A=
ENST00000683377.1:n.4660A=
ENST00000683456.1:c.*1686A=	ENSP00000508318.1:n.*1686A=
ENST00000683522.1:n.4846A=
ENST00000683562.1:c.*2614A=	ENSP00000508265.1:n.*2614A=
ENST00000683693.1:n.6225A=
ENST00000683725.1:c.*14A=	ENSP00000507496.1:n.*14A=
ENST00000684010.1:n.4759A=
ENST00000684014.1:n.736A=
ENST00000684157.1:n.5749A=
ENST00000684253.1:n.4667A=
ENST00000684288.1:c.*2721A=	ENSP00000507143.1:n.*2721A=
ENST00000684313.1:n.4196A=
ENST00000684332.1:n.4837A=
ENST00000684371.1:n.4870A=
ENST00000684404.1:n.5792A=
ENST00000684442.1:n.4988A=
ENST00000684555.1:c.*2761A=	ENSP00000507705.1:n.*2761A=
ENST00000684571.1:c.4390A=	ENSP00000506935.1:p.Asn1464=
ENST00000684593.1:c.*4254A=	ENSP00000507005.1:n.*4254A=
ENST00000684711.1:c.*2945A=	ENSP00000506841.1:n.*2945A=
ENST00000302539.9:c.4552A=	ENSP00000303960.4:p.Asn1518=
ENST00000389817.8:c.4549A= MANE Select	ENSP00000374467.4:p.Asn1517=
ENST00000642271.1:c.4546A=	ENSP00000493749.1:p.Asn1516=
ENST00000642579.1:c.2603A=
ENST00000642611.1:n.5767A=
ENST00000642902.1:c.4331A=
ENST00000643260.1:c.4549A=	ENSP00000494450.1:p.Asn1517=
ENST00000643562.1:c.*2671A=	ENSP00000496124.1:n.*2671A=
ENST00000643925.1:c.3185+510A=
ENST00000644057.1:n.708A=
ENST00000644484.1:c.*3935A=	ENSP00000493558.1:n.*3935A=
ENST00000644675.1:c.*2721A=	ENSP00000494567.1:n.*2721A=
ENST00000644757.1:c.*3203-776A=	ENSP00000495085.1:n.*3203-776A=
ENST00000644772.1:c.4615A=	ENSP00000494321.1:p.Asn1539=
ENST00000645004.1:n.2242A=
ENST00000645076.1:c.3644A=
ENST00000645417.1:c.1737A=
ENST00000645744.1:c.*4234A=	ENSP00000494564.1:n.*4234A=
ENST00000645760.1:c.4970A=
ENST00000645884.1:c.*1832A=	ENSP00000495516.1:n.*1832A=
ENST00000646003.1:c.*2571A=	ENSP00000495259.1:n.*2571A=
ENST00000646207.1:c.*3386A=	ENSP00000495025.1:n.*3386A=
ENST00000646276.1:c.*3953A=	ENSP00000496070.1:n.*3953A=
ENST00000646592.1:c.3855A=
ENST00000646902.1:c.4516A=	ENSP00000494101.1:p.Asn1506=
ENST00000646993.1:c.*2987A=	ENSP00000493720.1:n.*2987A=
ENST00000647015.1:c.4300A=	ENSP00000495389.1:p.Asn1434=
ENST00000647086.1:c.*4135A=	ENSP00000493677.1:n.*4135A=
ENST00000647158.1:c.*2836A=	ENSP00000495744.1:n.*2836A=
ENST00000302539.8:c.4552A=	ENSP00000303960.4:p.Asn1518=
ENST00000389817.7:c.4549A=	ENSP00000374467.3:p.Asn1517=
ENST00000525022.1:n.444A=
ENST00000526037.5:n.309A=
ENST00000526168.5:c.337A=
ENST00000531642.5:c.580A=
NM_000352.4:c.4549A=	NP_000343.2:p.Asn1517=
NM_001287174.1:c.4552A=	NP_001274103.1:p.Asn1518=
XM_011520331.1:c.4549A=	XP_011518633.1:p.Asn1517=
XM_011520333.1:c.3049A=	XP_011518635.1:p.Asn1017=
XR_930890.1:n.4511A=
NM_001351295.1:c.4615A=	NP_001338224.1:p.Asn1539=
NM_001351296.1:c.4549A=	NP_001338225.1:p.Asn1517=
NM_001351297.1:c.4546A=	NP_001338226.1:p.Asn1516=
NR_147094.1:n.4844A=
XM_017018197.2:c.4618A=	XP_016873686.1:p.Asn1540=
XM_017018199.1:c.4615A=	XP_016873688.1:p.Asn1539=
XM_017018202.1:c.3115A=	XP_016873691.1:p.Asn1039=
XM_017018204.1:c.2506A=	XP_016873693.1:p.Asn836=
XM_024448668.1:c.2917A=	XP_024304436.1:p.Asn973=
XR_001747945.2:n.4586A=
XR_001747946.2:n.4517A=
XR_002957189.1:n.6300A=
NM_000352.6:c.4549A= MANE Select	NP_000343.2:p.Asn1517=
NM_001287174.2:c.4552A=	NP_001274103.1:p.Asn1518=
NM_001351295.2:c.4615A=	NP_001338224.1:p.Asn1539=
NM_001351296.2:c.4549A=	NP_001338225.1:p.Asn1517=
NM_001351297.2:c.4546A=	NP_001338226.1:p.Asn1516=
NR_147094.2:n.4844A=
NM_001287174.3:c.4552A=	NP_001274103.1:p.Asn1518=