Canonical Allele Identifier: CA2790589796

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404492dup , CM000673.2:g.17404492dup	GRCh38
NC_000011.9:g.17426039dup , CM000673.1:g.17426039dup	GRCh37
NC_000011.8:g.17382615dup	NCBI36
NG_008867.1:g.77414dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3126+23dup
ENST00000528374.2:c.136+23dup
ENST00000529967.6:n.1896+23dup
ENST00000532220.2:n.1289+23dup
ENST00000642611.2:n.3626+23dup
ENST00000645004.2:n.1056+23dup
ENST00000682051.1:n.3573+23dup
ENST00000682110.1:n.3626+23dup
ENST00000682140.1:c.3554+23dup	ENSP00000507829.1:n.3554+23dup
ENST00000682185.1:n.4862+23dup
ENST00000682204.1:c.*1695+23dup	ENSP00000507094.1:n.*1695+23dup
ENST00000682215.1:n.3623+23dup
ENST00000682288.1:c.*1988+23dup	ENSP00000507506.1:n.*1988+23dup
ENST00000682442.1:n.3846+23dup
ENST00000682528.1:n.3703+23dup
ENST00000682673.1:n.3570+23dup
ENST00000682805.1:n.3623+23dup
ENST00000682965.1:c.3396+1005dup	ENSP00000508229.1:n.3396+1005dup
ENST00000683093.1:n.3725+23dup
ENST00000683136.1:c.3554+23dup	ENSP00000507768.1:n.3554+23dup
ENST00000683153.1:n.3782+23dup
ENST00000683365.1:n.3728+23dup
ENST00000683377.1:n.3626+23dup
ENST00000683456.1:c.*694+23dup	ENSP00000508318.1:n.*694+23dup
ENST00000683522.1:n.3626+23dup
ENST00000683562.1:c.*1726+23dup	ENSP00000508265.1:n.*1726+23dup
ENST00000683693.1:n.3703+23dup
ENST00000683725.1:c.3557+23dup	ENSP00000507496.1:n.3557+23dup
ENST00000684010.1:n.3621+23dup
ENST00000684157.1:n.3626+23dup
ENST00000684253.1:n.3529+23dup
ENST00000684288.1:c.*1729+23dup	ENSP00000507143.1:n.*1729+23dup
ENST00000684313.1:n.3058+23dup
ENST00000684332.1:n.3699+23dup
ENST00000684371.1:n.3732+23dup
ENST00000684404.1:n.3669+23dup
ENST00000684442.1:n.3626+23dup
ENST00000684555.1:c.*1769+23dup	ENSP00000507705.1:n.*1769+23dup
ENST00000684571.1:c.3398+23dup	ENSP00000506935.1:n.3398+23dup
ENST00000684593.1:c.*3262+23dup	ENSP00000507005.1:n.*3262+23dup
ENST00000684711.1:c.*1953+23dup	ENSP00000506841.1:n.*1953+23dup
ENST00000302539.9:c.3560+23dup	ENSP00000303960.4:n.3560+23dup
ENST00000389817.8:c.3557+23dup MANE Select	ENSP00000374467.4:n.3557+23dup
ENST00000642271.1:c.3554+23dup	ENSP00000493749.1:n.3554+23dup
ENST00000642579.1:c.1641+23dup
ENST00000642611.1:n.3511+23dup
ENST00000642902.1:c.3339+23dup
ENST00000643260.1:c.3557+23dup	ENSP00000494450.1:n.3557+23dup
ENST00000643562.1:c.*1533+23dup	ENSP00000496124.1:n.*1533+23dup
ENST00000643925.1:c.1681+23dup
ENST00000644447.1:c.1913+23dup	ENSP00000496282.1:n.1913+23dup
ENST00000644484.1:c.*1812+23dup	ENSP00000493558.1:n.*1812+23dup
ENST00000644675.1:c.*1729+23dup	ENSP00000494567.1:n.*1729+23dup
ENST00000644757.1:c.*1842+23dup	ENSP00000495085.1:n.*1842+23dup
ENST00000644772.1:c.3623+23dup	ENSP00000494321.1:n.3623+23dup
ENST00000645004.1:n.696+23dup
ENST00000645076.1:c.2756+23dup
ENST00000645417.1:c.723+23dup
ENST00000645744.1:c.*1821+23dup	ENSP00000494564.1:n.*1821+23dup
ENST00000645760.1:c.3832+23dup
ENST00000645884.1:c.*694+23dup	ENSP00000495516.1:n.*694+23dup
ENST00000646003.1:c.*1513+23dup	ENSP00000495259.1:n.*1513+23dup
ENST00000646207.1:c.*2024+23dup	ENSP00000495025.1:n.*2024+23dup
ENST00000646276.1:c.*1830+23dup	ENSP00000496070.1:n.*1830+23dup
ENST00000646592.1:c.2863+23dup
ENST00000646902.1:c.3554+23dup	ENSP00000494101.1:n.3554+23dup
ENST00000646993.1:c.*1953+23dup	ENSP00000493720.1:n.*1953+23dup
ENST00000647013.1:c.3563+23dup	ENSP00000496741.1:n.3563+23dup
ENST00000647015.1:c.3308+23dup	ENSP00000495389.1:n.3308+23dup
ENST00000647086.1:c.*3287+23dup	ENSP00000493677.1:n.*3287+23dup
ENST00000647158.1:c.*1698+23dup	ENSP00000495744.1:n.*1698+23dup
ENST00000302539.8:c.3560+23dup	ENSP00000303960.4:n.3560+23dup
ENST00000389817.7:c.3557+23dup	ENSP00000374467.3:n.3557+23dup
ENST00000524561.1:n.689+23dup
ENST00000527905.5:c.*433+23dup	ENSP00000431653.1:n.*433+23dup
ENST00000528374.1:c.27+23dup
ENST00000531137.1:n.50+23dup
NM_000352.4:c.3557+23dup	NP_000343.2:n.3557+23dup
NM_001287174.1:c.3560+23dup	NP_001274103.1:n.3560+23dup
XM_011520331.1:c.3557+23dup	XP_011518633.1:n.3557+23dup
XM_011520332.1:c.3560+23dup	XP_011518634.1:n.3560+23dup
XM_011520333.1:c.2057+23dup	XP_011518635.1:n.2057+23dup
XR_930890.1:n.3623+23dup
XR_930892.1:n.3523+23dup
XR_930893.1:n.3520+23dup
NM_001351295.1:c.3623+23dup	NP_001338224.1:n.3623+23dup
NM_001351296.1:c.3557+23dup	NP_001338225.1:n.3557+23dup
NM_001351297.1:c.3554+23dup	NP_001338226.1:n.3554+23dup
NR_147094.1:n.3706+23dup
XM_017018197.2:c.3626+23dup	XP_016873686.1:n.3626+23dup
XM_017018199.1:c.3623+23dup	XP_016873688.1:n.3623+23dup
XM_017018201.2:c.3626+23dup	XP_016873690.1:n.3626+23dup
XM_017018202.1:c.2123+23dup	XP_016873691.1:n.2123+23dup
XM_017018204.1:c.1514+23dup	XP_016873693.1:n.1514+23dup
XM_024448668.1:c.1925+23dup	XP_024304436.1:n.1925+23dup
XR_001747945.2:n.3698+23dup
XR_001747946.2:n.3629+23dup
XR_002957189.1:n.3778+23dup
NM_000352.6:c.3557+23dup MANE Select	NP_000343.2:n.3557+23dup
NM_001287174.2:c.3560+23dup	NP_001274103.1:n.3560+23dup
NM_001351295.2:c.3623+23dup	NP_001338224.1:n.3623+23dup
NM_001351296.2:c.3557+23dup	NP_001338225.1:n.3557+23dup
NM_001351297.2:c.3554+23dup	NP_001338226.1:n.3554+23dup
NR_147094.2:n.3706+23dup
NM_001287174.3:c.3560+23dup	NP_001274103.1:n.3560+23dup