Canonical Allele Identifier: CA2612661119

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17404384-ATTTCTGTTTTTTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404388_17404400del , CM000673.2:g.17404388_17404400del	GRCh38
NC_000011.9:g.17425935_17425947del , CM000673.1:g.17425935_17425947del	GRCh37
NC_000011.8:g.17382511_17382523del	NCBI36
NG_008867.1:g.77506_77518del

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3126+115_3126+127del
ENST00000528374.2:c.136+115_136+127del
ENST00000529967.6:n.1896+115_1896+127del
ENST00000532220.2:n.1289+115_1289+127del
ENST00000642611.2:n.3626+115_3626+127del
ENST00000645004.2:n.1056+115_1056+127del
ENST00000682051.1:n.3573+115_3573+127del
ENST00000682110.1:n.3626+115_3626+127del
ENST00000682140.1:c.3554+115_3554+127del	ENSP00000507829.1:n.3554+115_3554+127del
ENST00000682185.1:n.4862+115_4862+127del
ENST00000682204.1:c.*1695+115_*1695+127del	ENSP00000507094.1:n.*1695+115_*1695+127del
ENST00000682215.1:n.3623+115_3623+127del
ENST00000682288.1:c.*1988+115_*1988+127del	ENSP00000507506.1:n.*1988+115_*1988+127del
ENST00000682442.1:n.3846+115_3846+127del
ENST00000682528.1:n.3703+115_3703+127del
ENST00000682673.1:n.3570+115_3570+127del
ENST00000682805.1:n.3623+115_3623+127del
ENST00000682965.1:c.3396+1097_3396+1109del	ENSP00000508229.1:n.3396+1097_3396+1109del
ENST00000683093.1:n.3725+115_3725+127del
ENST00000683136.1:c.3554+115_3554+127del	ENSP00000507768.1:n.3554+115_3554+127del
ENST00000683153.1:n.3782+115_3782+127del
ENST00000683365.1:n.3728+115_3728+127del
ENST00000683377.1:n.3626+115_3626+127del
ENST00000683456.1:c.*694+115_*694+127del	ENSP00000508318.1:n.*694+115_*694+127del
ENST00000683522.1:n.3626+115_3626+127del
ENST00000683562.1:c.*1726+115_*1726+127del	ENSP00000508265.1:n.*1726+115_*1726+127del
ENST00000683693.1:n.3703+115_3703+127del
ENST00000683725.1:c.3557+115_3557+127del	ENSP00000507496.1:n.3557+115_3557+127del
ENST00000684010.1:n.3621+115_3621+127del
ENST00000684157.1:n.3626+115_3626+127del
ENST00000684253.1:n.3529+115_3529+127del
ENST00000684288.1:c.*1729+115_*1729+127del	ENSP00000507143.1:n.*1729+115_*1729+127del
ENST00000684313.1:n.3058+115_3058+127del
ENST00000684332.1:n.3699+115_3699+127del
ENST00000684371.1:n.3732+115_3732+127del
ENST00000684404.1:n.3669+115_3669+127del
ENST00000684442.1:n.3626+115_3626+127del
ENST00000684555.1:c.*1769+115_*1769+127del	ENSP00000507705.1:n.*1769+115_*1769+127del
ENST00000684571.1:c.3398+115_3398+127del	ENSP00000506935.1:n.3398+115_3398+127del
ENST00000684593.1:c.*3262+115_*3262+127del	ENSP00000507005.1:n.*3262+115_*3262+127del
ENST00000684711.1:c.*1953+115_*1953+127del	ENSP00000506841.1:n.*1953+115_*1953+127del
ENST00000302539.9:c.3560+115_3560+127del	ENSP00000303960.4:n.3560+115_3560+127del
ENST00000389817.8:c.3557+115_3557+127del MANE Select	ENSP00000374467.4:n.3557+115_3557+127del
ENST00000642271.1:c.3554+115_3554+127del	ENSP00000493749.1:n.3554+115_3554+127del
ENST00000642579.1:c.1641+115_1641+127del
ENST00000642611.1:n.3511+115_3511+127del
ENST00000642902.1:c.3339+115_3339+127del
ENST00000643260.1:c.3557+115_3557+127del	ENSP00000494450.1:n.3557+115_3557+127del
ENST00000643562.1:c.*1533+115_*1533+127del	ENSP00000496124.1:n.*1533+115_*1533+127del
ENST00000643925.1:c.1681+115_1681+127del
ENST00000644447.1:c.1913+115_1913+127del	ENSP00000496282.1:n.1913+115_1913+127del
ENST00000644484.1:c.*1812+115_*1812+127del	ENSP00000493558.1:n.*1812+115_*1812+127del
ENST00000644675.1:c.*1729+115_*1729+127del	ENSP00000494567.1:n.*1729+115_*1729+127del
ENST00000644757.1:c.*1842+115_*1842+127del	ENSP00000495085.1:n.*1842+115_*1842+127del
ENST00000644772.1:c.3623+115_3623+127del	ENSP00000494321.1:n.3623+115_3623+127del
ENST00000645004.1:n.696+115_696+127del
ENST00000645076.1:c.2756+115_2756+127del
ENST00000645417.1:c.723+115_723+127del
ENST00000645744.1:c.*1821+115_*1821+127del	ENSP00000494564.1:n.*1821+115_*1821+127del
ENST00000645760.1:c.3832+115_3832+127del
ENST00000645884.1:c.*694+115_*694+127del	ENSP00000495516.1:n.*694+115_*694+127del
ENST00000646003.1:c.*1513+115_*1513+127del	ENSP00000495259.1:n.*1513+115_*1513+127del
ENST00000646207.1:c.*2024+115_*2024+127del	ENSP00000495025.1:n.*2024+115_*2024+127del
ENST00000646276.1:c.*1830+115_*1830+127del	ENSP00000496070.1:n.*1830+115_*1830+127del
ENST00000646592.1:c.2863+115_2863+127del
ENST00000646902.1:c.3554+115_3554+127del	ENSP00000494101.1:n.3554+115_3554+127del
ENST00000646993.1:c.*1953+115_*1953+127del	ENSP00000493720.1:n.*1953+115_*1953+127del
ENST00000647013.1:c.3563+115_3563+127del	ENSP00000496741.1:n.3563+115_3563+127del
ENST00000647015.1:c.3308+115_3308+127del	ENSP00000495389.1:n.3308+115_3308+127del
ENST00000647086.1:c.*3287+115_*3287+127del	ENSP00000493677.1:n.*3287+115_*3287+127del
ENST00000647158.1:c.*1698+115_*1698+127del	ENSP00000495744.1:n.*1698+115_*1698+127del
ENST00000302539.8:c.3560+115_3560+127del	ENSP00000303960.4:n.3560+115_3560+127del
ENST00000389817.7:c.3557+115_3557+127del	ENSP00000374467.3:n.3557+115_3557+127del
ENST00000524561.1:n.689+115_689+127del
ENST00000527905.5:c.*433+115_*433+127del	ENSP00000431653.1:n.*433+115_*433+127del
ENST00000528374.1:c.27+115_27+127del
ENST00000531137.1:n.50+115_50+127del
NM_000352.4:c.3557+115_3557+127del	NP_000343.2:n.3557+115_3557+127del
NM_001287174.1:c.3560+115_3560+127del	NP_001274103.1:n.3560+115_3560+127del
XM_011520331.1:c.3557+115_3557+127del	XP_011518633.1:n.3557+115_3557+127del
XM_011520332.1:c.3560+115_3560+127del	XP_011518634.1:n.3560+115_3560+127del
XM_011520333.1:c.2057+115_2057+127del	XP_011518635.1:n.2057+115_2057+127del
XR_930890.1:n.3623+115_3623+127del
XR_930892.1:n.3523+115_3523+127del
XR_930893.1:n.3520+115_3520+127del
NM_001351295.1:c.3623+115_3623+127del	NP_001338224.1:n.3623+115_3623+127del
NM_001351296.1:c.3557+115_3557+127del	NP_001338225.1:n.3557+115_3557+127del
NM_001351297.1:c.3554+115_3554+127del	NP_001338226.1:n.3554+115_3554+127del
NR_147094.1:n.3706+115_3706+127del
XM_017018197.2:c.3626+115_3626+127del	XP_016873686.1:n.3626+115_3626+127del
XM_017018199.1:c.3623+115_3623+127del	XP_016873688.1:n.3623+115_3623+127del
XM_017018201.2:c.3626+115_3626+127del	XP_016873690.1:n.3626+115_3626+127del
XM_017018202.1:c.2123+115_2123+127del	XP_016873691.1:n.2123+115_2123+127del
XM_017018204.1:c.1514+115_1514+127del	XP_016873693.1:n.1514+115_1514+127del
XM_024448668.1:c.1925+115_1925+127del	XP_024304436.1:n.1925+115_1925+127del
XR_001747945.2:n.3698+115_3698+127del
XR_001747946.2:n.3629+115_3629+127del
XR_002957189.1:n.3778+115_3778+127del
NM_000352.6:c.3557+115_3557+127del MANE Select	NP_000343.2:n.3557+115_3557+127del
NM_001287174.2:c.3560+115_3560+127del	NP_001274103.1:n.3560+115_3560+127del
NM_001351295.2:c.3623+115_3623+127del	NP_001338224.1:n.3623+115_3623+127del
NM_001351296.2:c.3557+115_3557+127del	NP_001338225.1:n.3557+115_3557+127del
NM_001351297.2:c.3554+115_3554+127del	NP_001338226.1:n.3554+115_3554+127del
NR_147094.2:n.3706+115_3706+127del
NM_001287174.3:c.3560+115_3560+127del	NP_001274103.1:n.3560+115_3560+127del