Canonical Allele Identifier: CA2612661100

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17404372-T-TGG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404372_17404373insGG , CM000673.2:g.17404372_17404373insGG	GRCh38
NC_000011.9:g.17425919_17425920insGG , CM000673.1:g.17425919_17425920insGG	GRCh37
NC_000011.8:g.17382495_17382496insGG	NCBI36
NG_008867.1:g.77530_77531insCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3126+139_3126+140insCC
ENST00000528374.2:c.136+139_136+140insCC
ENST00000529967.6:n.1896+139_1896+140insCC
ENST00000532220.2:n.1289+139_1289+140insCC
ENST00000642611.2:n.3626+139_3626+140insCC
ENST00000645004.2:n.1056+139_1056+140insCC
ENST00000682051.1:n.3573+139_3573+140insCC
ENST00000682110.1:n.3626+139_3626+140insCC
ENST00000682140.1:c.3554+139_3554+140insCC	ENSP00000507829.1:n.3554+139_3554+140insCC
ENST00000682185.1:n.4862+139_4862+140insCC
ENST00000682204.1:c.*1695+139_*1695+140insCC	ENSP00000507094.1:n.*1695+139_*1695+140insCC
ENST00000682215.1:n.3623+139_3623+140insCC
ENST00000682288.1:c.*1988+139_*1988+140insCC	ENSP00000507506.1:n.*1988+139_*1988+140insCC
ENST00000682442.1:n.3846+139_3846+140insCC
ENST00000682528.1:n.3703+139_3703+140insCC
ENST00000682673.1:n.3570+139_3570+140insCC
ENST00000682805.1:n.3623+139_3623+140insCC
ENST00000682965.1:c.3396+1121_3396+1122insCC	ENSP00000508229.1:n.3396+1121_3396+1122insCC
ENST00000683093.1:n.3725+139_3725+140insCC
ENST00000683136.1:c.3554+139_3554+140insCC	ENSP00000507768.1:n.3554+139_3554+140insCC
ENST00000683153.1:n.3782+139_3782+140insCC
ENST00000683365.1:n.3728+139_3728+140insCC
ENST00000683377.1:n.3626+139_3626+140insCC
ENST00000683456.1:c.*694+139_*694+140insCC	ENSP00000508318.1:n.*694+139_*694+140insCC
ENST00000683522.1:n.3626+139_3626+140insCC
ENST00000683562.1:c.*1726+139_*1726+140insCC	ENSP00000508265.1:n.*1726+139_*1726+140insCC
ENST00000683693.1:n.3703+139_3703+140insCC
ENST00000683725.1:c.3557+139_3557+140insCC	ENSP00000507496.1:n.3557+139_3557+140insCC
ENST00000684010.1:n.3621+139_3621+140insCC
ENST00000684157.1:n.3626+139_3626+140insCC
ENST00000684253.1:n.3529+139_3529+140insCC
ENST00000684288.1:c.*1729+139_*1729+140insCC	ENSP00000507143.1:n.*1729+139_*1729+140insCC
ENST00000684313.1:n.3058+139_3058+140insCC
ENST00000684332.1:n.3699+139_3699+140insCC
ENST00000684371.1:n.3732+139_3732+140insCC
ENST00000684404.1:n.3669+139_3669+140insCC
ENST00000684442.1:n.3626+139_3626+140insCC
ENST00000684555.1:c.*1769+139_*1769+140insCC	ENSP00000507705.1:n.*1769+139_*1769+140insCC
ENST00000684571.1:c.3398+139_3398+140insCC	ENSP00000506935.1:n.3398+139_3398+140insCC
ENST00000684593.1:c.*3262+139_*3262+140insCC	ENSP00000507005.1:n.*3262+139_*3262+140insCC
ENST00000684711.1:c.*1953+139_*1953+140insCC	ENSP00000506841.1:n.*1953+139_*1953+140insCC
ENST00000302539.9:c.3560+139_3560+140insCC	ENSP00000303960.4:n.3560+139_3560+140insCC
ENST00000389817.8:c.3557+139_3557+140insCC MANE Select	ENSP00000374467.4:n.3557+139_3557+140insCC
ENST00000642271.1:c.3554+139_3554+140insCC	ENSP00000493749.1:n.3554+139_3554+140insCC
ENST00000642579.1:c.1641+139_1641+140insCC
ENST00000642611.1:n.3511+139_3511+140insCC
ENST00000642902.1:c.3339+139_3339+140insCC
ENST00000643260.1:c.3557+139_3557+140insCC	ENSP00000494450.1:n.3557+139_3557+140insCC
ENST00000643562.1:c.*1533+139_*1533+140insCC	ENSP00000496124.1:n.*1533+139_*1533+140insCC
ENST00000643925.1:c.1681+139_1681+140insCC
ENST00000644447.1:c.1913+139_1913+140insCC	ENSP00000496282.1:n.1913+139_1913+140insCC
ENST00000644484.1:c.*1812+139_*1812+140insCC	ENSP00000493558.1:n.*1812+139_*1812+140insCC
ENST00000644675.1:c.*1729+139_*1729+140insCC	ENSP00000494567.1:n.*1729+139_*1729+140insCC
ENST00000644757.1:c.*1842+139_*1842+140insCC	ENSP00000495085.1:n.*1842+139_*1842+140insCC
ENST00000644772.1:c.3623+139_3623+140insCC	ENSP00000494321.1:n.3623+139_3623+140insCC
ENST00000645004.1:n.696+139_696+140insCC
ENST00000645076.1:c.2756+139_2756+140insCC
ENST00000645417.1:c.723+139_723+140insCC
ENST00000645744.1:c.*1821+139_*1821+140insCC	ENSP00000494564.1:n.*1821+139_*1821+140insCC
ENST00000645760.1:c.3832+139_3832+140insCC
ENST00000645884.1:c.*694+139_*694+140insCC	ENSP00000495516.1:n.*694+139_*694+140insCC
ENST00000646003.1:c.*1513+139_*1513+140insCC	ENSP00000495259.1:n.*1513+139_*1513+140insCC
ENST00000646207.1:c.*2024+139_*2024+140insCC	ENSP00000495025.1:n.*2024+139_*2024+140insCC
ENST00000646276.1:c.*1830+139_*1830+140insCC	ENSP00000496070.1:n.*1830+139_*1830+140insCC
ENST00000646592.1:c.2863+139_2863+140insCC
ENST00000646902.1:c.3554+139_3554+140insCC	ENSP00000494101.1:n.3554+139_3554+140insCC
ENST00000646993.1:c.*1953+139_*1953+140insCC	ENSP00000493720.1:n.*1953+139_*1953+140insCC
ENST00000647013.1:c.3563+139_3563+140insCC	ENSP00000496741.1:n.3563+139_3563+140insCC
ENST00000647015.1:c.3308+139_3308+140insCC	ENSP00000495389.1:n.3308+139_3308+140insCC
ENST00000647086.1:c.*3287+139_*3287+140insCC	ENSP00000493677.1:n.*3287+139_*3287+140insCC
ENST00000647158.1:c.*1698+139_*1698+140insCC	ENSP00000495744.1:n.*1698+139_*1698+140insCC
ENST00000302539.8:c.3560+139_3560+140insCC	ENSP00000303960.4:n.3560+139_3560+140insCC
ENST00000389817.7:c.3557+139_3557+140insCC	ENSP00000374467.3:n.3557+139_3557+140insCC
ENST00000524561.1:n.689+139_689+140insCC
ENST00000527905.5:c.*433+139_*433+140insCC	ENSP00000431653.1:n.*433+139_*433+140insCC
ENST00000528374.1:c.27+139_27+140insCC
ENST00000531137.1:n.50+139_50+140insCC
NM_000352.4:c.3557+139_3557+140insCC	NP_000343.2:n.3557+139_3557+140insCC
NM_001287174.1:c.3560+139_3560+140insCC	NP_001274103.1:n.3560+139_3560+140insCC
XM_011520331.1:c.3557+139_3557+140insCC	XP_011518633.1:n.3557+139_3557+140insCC
XM_011520332.1:c.3560+139_3560+140insCC	XP_011518634.1:n.3560+139_3560+140insCC
XM_011520333.1:c.2057+139_2057+140insCC	XP_011518635.1:n.2057+139_2057+140insCC
XR_930890.1:n.3623+139_3623+140insCC
XR_930892.1:n.3523+139_3523+140insCC
XR_930893.1:n.3520+139_3520+140insCC
NM_001351295.1:c.3623+139_3623+140insCC	NP_001338224.1:n.3623+139_3623+140insCC
NM_001351296.1:c.3557+139_3557+140insCC	NP_001338225.1:n.3557+139_3557+140insCC
NM_001351297.1:c.3554+139_3554+140insCC	NP_001338226.1:n.3554+139_3554+140insCC
NR_147094.1:n.3706+139_3706+140insCC
XM_017018197.2:c.3626+139_3626+140insCC	XP_016873686.1:n.3626+139_3626+140insCC
XM_017018199.1:c.3623+139_3623+140insCC	XP_016873688.1:n.3623+139_3623+140insCC
XM_017018201.2:c.3626+139_3626+140insCC	XP_016873690.1:n.3626+139_3626+140insCC
XM_017018202.1:c.2123+139_2123+140insCC	XP_016873691.1:n.2123+139_2123+140insCC
XM_017018204.1:c.1514+139_1514+140insCC	XP_016873693.1:n.1514+139_1514+140insCC
XM_024448668.1:c.1925+139_1925+140insCC	XP_024304436.1:n.1925+139_1925+140insCC
XR_001747945.2:n.3698+139_3698+140insCC
XR_001747946.2:n.3629+139_3629+140insCC
XR_002957189.1:n.3778+139_3778+140insCC
NM_000352.6:c.3557+139_3557+140insCC MANE Select	NP_000343.2:n.3557+139_3557+140insCC
NM_001287174.2:c.3560+139_3560+140insCC	NP_001274103.1:n.3560+139_3560+140insCC
NM_001351295.2:c.3623+139_3623+140insCC	NP_001338224.1:n.3623+139_3623+140insCC
NM_001351296.2:c.3557+139_3557+140insCC	NP_001338225.1:n.3557+139_3557+140insCC
NM_001351297.2:c.3554+139_3554+140insCC	NP_001338226.1:n.3554+139_3554+140insCC
NR_147094.2:n.3706+139_3706+140insCC
NM_001287174.3:c.3560+139_3560+140insCC	NP_001274103.1:n.3560+139_3560+140insCC