Canonical Allele Identifier: CA2695213277

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393121dup , CM000673.2:g.17393121dup	GRCh38
NC_000011.9:g.17414668dup , CM000673.1:g.17414668dup	GRCh37
NC_000011.8:g.17371244dup	NCBI36
NG_008867.1:g.88782dup
NG_012446.1:g.539dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.4217dup
ENST00000526037.6:n.551dup
ENST00000528374.2:c.1207dup
ENST00000529967.6:n.2955dup
ENST00000532220.2:n.3849dup
ENST00000642611.2:n.5949dup
ENST00000644057.2:n.1192dup
ENST00000645004.2:n.2115dup
ENST00000682051.1:n.4778dup
ENST00000682110.1:n.4831dup
ENST00000682140.1:c.*402dup	ENSP00000507829.1:n.*402dup
ENST00000682185.1:n.5921dup
ENST00000682204.1:c.*2754dup	ENSP00000507094.1:n.*2754dup
ENST00000682215.1:n.5198dup
ENST00000682288.1:c.*3047dup	ENSP00000507506.1:n.*3047dup
ENST00000682442.1:n.5051dup
ENST00000682528.1:n.4908dup
ENST00000682673.1:n.4775dup
ENST00000682805.1:n.5236dup
ENST00000682965.1:c.*1038dup	ENSP00000508229.1:n.*1038dup
ENST00000683093.1:n.5811dup
ENST00000683136.1:c.4499dup	ENSP00000507768.1:p.His1501AlafsTer19
ENST00000683153.1:n.4873dup
ENST00000683365.1:n.4933dup
ENST00000683377.1:n.4727dup
ENST00000683456.1:c.*1753dup	ENSP00000508318.1:n.*1753dup
ENST00000683522.1:n.4913dup
ENST00000683562.1:c.*2681dup	ENSP00000508265.1:n.*2681dup
ENST00000683693.1:n.6292dup
ENST00000683725.1:c.*81dup	ENSP00000507496.1:n.*81dup
ENST00000684010.1:n.4826dup
ENST00000684014.1:n.803dup
ENST00000684157.1:n.5816dup
ENST00000684253.1:n.4734dup
ENST00000684288.1:c.*2788dup	ENSP00000507143.1:n.*2788dup
ENST00000684313.1:n.4263dup
ENST00000684332.1:n.4904dup
ENST00000684371.1:n.4937dup
ENST00000684404.1:n.5859dup
ENST00000684442.1:n.5055dup
ENST00000684555.1:c.*2828dup	ENSP00000507705.1:n.*2828dup
ENST00000684571.1:c.4457dup	ENSP00000506935.1:p.His1487AlafsTer19
ENST00000684593.1:c.*4321dup	ENSP00000507005.1:n.*4321dup
ENST00000684711.1:c.*3012dup	ENSP00000506841.1:n.*3012dup
ENST00000302539.9:c.4619dup	ENSP00000303960.4:p.His1541AlafsTer19
ENST00000389817.8:c.4616dup MANE Select	ENSP00000374467.4:p.His1540AlafsTer19
ENST00000642271.1:c.4613dup	ENSP00000493749.1:p.His1539AlafsTer19
ENST00000642579.1:c.2670dup
ENST00000642611.1:n.5834dup
ENST00000642902.1:c.4398dup
ENST00000643260.1:c.4616dup	ENSP00000494450.1:p.His1540AlafsTer19
ENST00000643562.1:c.*2738dup	ENSP00000496124.1:n.*2738dup
ENST00000643925.1:c.3193dup
ENST00000644057.1:n.775dup
ENST00000644484.1:c.*4002dup	ENSP00000493558.1:n.*4002dup
ENST00000644675.1:c.*2788dup	ENSP00000494567.1:n.*2788dup
ENST00000644757.1:c.*3203-141dup	ENSP00000495085.1:n.*3203-141dup
ENST00000644772.1:c.4682dup	ENSP00000494321.1:p.His1562AlafsTer19
ENST00000645004.1:n.2309dup
ENST00000645076.1:c.3711dup
ENST00000645417.1:c.1804dup
ENST00000645744.1:c.*4301dup	ENSP00000494564.1:n.*4301dup
ENST00000645760.1:c.5037dup
ENST00000645884.1:c.*1899dup	ENSP00000495516.1:n.*1899dup
ENST00000646003.1:c.*2638dup	ENSP00000495259.1:n.*2638dup
ENST00000646207.1:c.*3453dup	ENSP00000495025.1:n.*3453dup
ENST00000646276.1:c.*4020dup	ENSP00000496070.1:n.*4020dup
ENST00000646592.1:c.3922dup
ENST00000646902.1:c.4583dup	ENSP00000494101.1:p.His1529AlafsTer19
ENST00000646993.1:c.*3054dup	ENSP00000493720.1:n.*3054dup
ENST00000647015.1:c.4367dup	ENSP00000495389.1:p.His1457AlafsTer19
ENST00000647086.1:c.*4202dup	ENSP00000493677.1:n.*4202dup
ENST00000647158.1:c.*2903dup	ENSP00000495744.1:n.*2903dup
ENST00000302539.8:c.4619dup	ENSP00000303960.4:p.His1541AlafsTer19
ENST00000389817.7:c.4616dup	ENSP00000374467.3:p.His1540AlafsTer19
ENST00000525022.1:n.595dup
ENST00000526037.5:n.376dup
ENST00000526168.5:c.404dup
ENST00000531642.5:c.647dup
NM_000352.4:c.4616dup	NP_000343.2:p.His1540AlafsTer19
NM_001287174.1:c.4619dup	NP_001274103.1:p.His1541AlafsTer19
XM_011520331.1:c.4616dup	XP_011518633.1:p.His1540AlafsTer19
XM_011520333.1:c.3116dup	XP_011518635.1:p.His1040AlafsTer19
XR_930890.1:n.4578dup
NM_001351295.1:c.4682dup	NP_001338224.1:p.His1562AlafsTer19
NM_001351296.1:c.4616dup	NP_001338225.1:p.His1540AlafsTer19
NM_001351297.1:c.4613dup	NP_001338226.1:p.His1539AlafsTer19
NR_147094.1:n.4911dup
XM_017018197.2:c.4685dup	XP_016873686.1:p.His1563AlafsTer19
XM_017018199.1:c.4682dup	XP_016873688.1:p.His1562AlafsTer19
XM_017018202.1:c.3182dup	XP_016873691.1:p.His1062AlafsTer19
XM_017018204.1:c.2573dup	XP_016873693.1:p.His859AlafsTer19
XM_024448668.1:c.2984dup	XP_024304436.1:p.His996AlafsTer19
XR_001747945.2:n.4653dup
XR_001747946.2:n.4584dup
XR_002957189.1:n.6367dup
NM_000352.6:c.4616dup MANE Select	NP_000343.2:p.His1540AlafsTer19
NM_001287174.2:c.4619dup	NP_001274103.1:p.His1541AlafsTer19
NM_001351295.2:c.4682dup	NP_001338224.1:p.His1562AlafsTer19
NM_001351296.2:c.4616dup	NP_001338225.1:p.His1540AlafsTer19
NM_001351297.2:c.4613dup	NP_001338226.1:p.His1539AlafsTer19
NR_147094.2:n.4911dup
NM_001287174.3:c.4619dup	NP_001274103.1:p.His1541AlafsTer19