Canonical Allele Identifier: CA1955127544
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17404499_17404500delinsCT , CM000673.2:g.17404499_17404500delinsCT GRCh38
NC_000011.9:g.17426046_17426047delinsCT , CM000673.1:g.17426046_17426047delinsCT GRCh37
NC_000011.8:g.17382622_17382623delinsCT NCBI36
NG_008867.1:g.77403_77404delinsAG

Transcript Alleles

HGVS Amino-acid change
ENST00000524561.2:n.3126+12_3126+13delinsAG
ENST00000528374.2:c.136+12_136+13delinsAG
ENST00000529967.6:n.1896+12_1896+13delinsAG
ENST00000532220.2:n.1289+12_1289+13delinsAG
ENST00000642611.2:n.3626+12_3626+13delinsAG
ENST00000645004.2:n.1056+12_1056+13delinsAG
ENST00000682051.1:n.3573+12_3573+13delinsAG
ENST00000682110.1:n.3626+12_3626+13delinsAG
ENST00000682140.1:c.3554+12_3554+13delinsAG ENSP00000507829.1:n.3554+12_3554+13delinsAG
ENST00000682185.1:n.4862+12_4862+13delinsAG
ENST00000682204.1:c.*1695+12_*1695+13delinsAG ENSP00000507094.1:n.*1695+12_*1695+13delinsAG
ENST00000682215.1:n.3623+12_3623+13delinsAG
ENST00000682288.1:c.*1988+12_*1988+13delinsAG ENSP00000507506.1:n.*1988+12_*1988+13delinsAG
ENST00000682442.1:n.3846+12_3846+13delinsAG
ENST00000682528.1:n.3703+12_3703+13delinsAG
ENST00000682673.1:n.3570+12_3570+13delinsAG
ENST00000682805.1:n.3623+12_3623+13delinsAG
ENST00000682965.1:c.3396+994_3396+995delinsAG ENSP00000508229.1:n.3396+994_3396+995delinsAG
ENST00000683093.1:n.3725+12_3725+13delinsAG
ENST00000683136.1:c.3554+12_3554+13delinsAG ENSP00000507768.1:n.3554+12_3554+13delinsAG
ENST00000683153.1:n.3782+12_3782+13delinsAG
ENST00000683365.1:n.3728+12_3728+13delinsAG
ENST00000683377.1:n.3626+12_3626+13delinsAG
ENST00000683456.1:c.*694+12_*694+13delinsAG ENSP00000508318.1:n.*694+12_*694+13delinsAG
ENST00000683522.1:n.3626+12_3626+13delinsAG
ENST00000683562.1:c.*1726+12_*1726+13delinsAG ENSP00000508265.1:n.*1726+12_*1726+13delinsAG
ENST00000683693.1:n.3703+12_3703+13delinsAG
ENST00000683725.1:c.3557+12_3557+13delinsAG ENSP00000507496.1:n.3557+12_3557+13delinsAG
ENST00000684010.1:n.3621+12_3621+13delinsAG
ENST00000684157.1:n.3626+12_3626+13delinsAG
ENST00000684253.1:n.3529+12_3529+13delinsAG
ENST00000684288.1:c.*1729+12_*1729+13delinsAG ENSP00000507143.1:n.*1729+12_*1729+13delinsAG
ENST00000684313.1:n.3058+12_3058+13delinsAG
ENST00000684332.1:n.3699+12_3699+13delinsAG
ENST00000684371.1:n.3732+12_3732+13delinsAG
ENST00000684404.1:n.3669+12_3669+13delinsAG
ENST00000684442.1:n.3626+12_3626+13delinsAG
ENST00000684555.1:c.*1769+12_*1769+13delinsAG ENSP00000507705.1:n.*1769+12_*1769+13delinsAG
ENST00000684571.1:c.3398+12_3398+13delinsAG ENSP00000506935.1:n.3398+12_3398+13delinsAG
ENST00000684593.1:c.*3262+12_*3262+13delinsAG ENSP00000507005.1:n.*3262+12_*3262+13delinsAG
ENST00000684711.1:c.*1953+12_*1953+13delinsAG ENSP00000506841.1:n.*1953+12_*1953+13delinsAG
ENST00000302539.9:c.3560+12_3560+13delinsAG ENSP00000303960.4:n.3560+12_3560+13delinsAG
ENST00000389817.8:c.3557+12_3557+13delinsAG MANE Select ENSP00000374467.4:n.3557+12_3557+13delinsAG
ENST00000642271.1:c.3554+12_3554+13delinsAG ENSP00000493749.1:n.3554+12_3554+13delinsAG
ENST00000642579.1:c.1641+12_1641+13delinsAG
ENST00000642611.1:n.3511+12_3511+13delinsAG
ENST00000642902.1:c.3339+12_3339+13delinsAG
ENST00000643260.1:c.3557+12_3557+13delinsAG ENSP00000494450.1:n.3557+12_3557+13delinsAG
ENST00000643562.1:c.*1533+12_*1533+13delinsAG ENSP00000496124.1:n.*1533+12_*1533+13delinsAG
ENST00000643925.1:c.1681+12_1681+13delinsAG
ENST00000644447.1:c.1913+12_1913+13delinsAG ENSP00000496282.1:n.1913+12_1913+13delinsAG
ENST00000644484.1:c.*1812+12_*1812+13delinsAG ENSP00000493558.1:n.*1812+12_*1812+13delinsAG
ENST00000644675.1:c.*1729+12_*1729+13delinsAG ENSP00000494567.1:n.*1729+12_*1729+13delinsAG
ENST00000644757.1:c.*1842+12_*1842+13delinsAG ENSP00000495085.1:n.*1842+12_*1842+13delinsAG
ENST00000644772.1:c.3623+12_3623+13delinsAG ENSP00000494321.1:n.3623+12_3623+13delinsAG
ENST00000645004.1:n.696+12_696+13delinsAG
ENST00000645076.1:c.2756+12_2756+13delinsAG
ENST00000645417.1:c.723+12_723+13delinsAG
ENST00000645744.1:c.*1821+12_*1821+13delinsAG ENSP00000494564.1:n.*1821+12_*1821+13delinsAG
ENST00000645760.1:c.3832+12_3832+13delinsAG
ENST00000645884.1:c.*694+12_*694+13delinsAG ENSP00000495516.1:n.*694+12_*694+13delinsAG
ENST00000646003.1:c.*1513+12_*1513+13delinsAG ENSP00000495259.1:n.*1513+12_*1513+13delinsAG
ENST00000646207.1:c.*2024+12_*2024+13delinsAG ENSP00000495025.1:n.*2024+12_*2024+13delinsAG
ENST00000646276.1:c.*1830+12_*1830+13delinsAG ENSP00000496070.1:n.*1830+12_*1830+13delinsAG
ENST00000646592.1:c.2863+12_2863+13delinsAG
ENST00000646902.1:c.3554+12_3554+13delinsAG ENSP00000494101.1:n.3554+12_3554+13delinsAG
ENST00000646993.1:c.*1953+12_*1953+13delinsAG ENSP00000493720.1:n.*1953+12_*1953+13delinsAG
ENST00000647013.1:c.3563+12_3563+13delinsAG ENSP00000496741.1:n.3563+12_3563+13delinsAG
ENST00000647015.1:c.3308+12_3308+13delinsAG ENSP00000495389.1:n.3308+12_3308+13delinsAG
ENST00000647086.1:c.*3287+12_*3287+13delinsAG ENSP00000493677.1:n.*3287+12_*3287+13delinsAG
ENST00000647158.1:c.*1698+12_*1698+13delinsAG ENSP00000495744.1:n.*1698+12_*1698+13delinsAG
ENST00000302539.8:c.3560+12_3560+13delinsAG ENSP00000303960.4:n.3560+12_3560+13delinsAG
ENST00000389817.7:c.3557+12_3557+13delinsAG ENSP00000374467.3:n.3557+12_3557+13delinsAG
ENST00000524561.1:n.689+12_689+13delinsAG
ENST00000527905.5:c.*433+12_*433+13delinsAG ENSP00000431653.1:n.*433+12_*433+13delinsAG
ENST00000528374.1:c.27+12_27+13delinsAG
ENST00000531137.1:n.50+12_50+13delinsAG
NM_000352.4:c.3557+12_3557+13delinsAG NP_000343.2:n.3557+12_3557+13delinsAG
NM_001287174.1:c.3560+12_3560+13delinsAG NP_001274103.1:n.3560+12_3560+13delinsAG
XM_011520331.1:c.3557+12_3557+13delinsAG XP_011518633.1:n.3557+12_3557+13delinsAG
XM_011520332.1:c.3560+12_3560+13delinsAG XP_011518634.1:n.3560+12_3560+13delinsAG
XM_011520333.1:c.2057+12_2057+13delinsAG XP_011518635.1:n.2057+12_2057+13delinsAG
XR_930890.1:n.3623+12_3623+13delinsAG
XR_930892.1:n.3523+12_3523+13delinsAG
XR_930893.1:n.3520+12_3520+13delinsAG
NM_001351295.1:c.3623+12_3623+13delinsAG NP_001338224.1:n.3623+12_3623+13delinsAG
NM_001351296.1:c.3557+12_3557+13delinsAG NP_001338225.1:n.3557+12_3557+13delinsAG
NM_001351297.1:c.3554+12_3554+13delinsAG NP_001338226.1:n.3554+12_3554+13delinsAG
NR_147094.1:n.3706+12_3706+13delinsAG
XM_017018197.2:c.3626+12_3626+13delinsAG XP_016873686.1:n.3626+12_3626+13delinsAG
XM_017018199.1:c.3623+12_3623+13delinsAG XP_016873688.1:n.3623+12_3623+13delinsAG
XM_017018201.2:c.3626+12_3626+13delinsAG XP_016873690.1:n.3626+12_3626+13delinsAG
XM_017018202.1:c.2123+12_2123+13delinsAG XP_016873691.1:n.2123+12_2123+13delinsAG
XM_017018204.1:c.1514+12_1514+13delinsAG XP_016873693.1:n.1514+12_1514+13delinsAG
XM_024448668.1:c.1925+12_1925+13delinsAG XP_024304436.1:n.1925+12_1925+13delinsAG
XR_001747945.2:n.3698+12_3698+13delinsAG
XR_001747946.2:n.3629+12_3629+13delinsAG
XR_002957189.1:n.3778+12_3778+13delinsAG
NM_000352.6:c.3557+12_3557+13delinsAG MANE Select NP_000343.2:n.3557+12_3557+13delinsAG
NM_001287174.2:c.3560+12_3560+13delinsAG NP_001274103.1:n.3560+12_3560+13delinsAG
NM_001351295.2:c.3623+12_3623+13delinsAG NP_001338224.1:n.3623+12_3623+13delinsAG
NM_001351296.2:c.3557+12_3557+13delinsAG NP_001338225.1:n.3557+12_3557+13delinsAG
NM_001351297.2:c.3554+12_3554+13delinsAG NP_001338226.1:n.3554+12_3554+13delinsAG
NR_147094.2:n.3706+12_3706+13delinsAG
NM_001287174.3:c.3560+12_3560+13delinsAG NP_001274103.1:n.3560+12_3560+13delinsAG