Canonical Allele Identifier: CA2695213314

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404635dup , CM000673.2:g.17404635dup	GRCh38
NC_000011.9:g.17426182dup , CM000673.1:g.17426182dup	GRCh37
NC_000011.8:g.17382758dup	NCBI36
NG_008867.1:g.77269dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3004dup
ENST00000528374.2:c.14dup
ENST00000529967.6:n.1774dup
ENST00000532220.2:n.1167dup
ENST00000642611.2:n.3504dup
ENST00000645004.2:n.934dup
ENST00000682051.1:n.3451dup
ENST00000682110.1:n.3504dup
ENST00000682140.1:c.3432dup	ENSP00000507829.1:p.Thr1145HisfsTer?
ENST00000682185.1:n.4740dup
ENST00000682204.1:c.*1573dup	ENSP00000507094.1:n.*1573dup
ENST00000682215.1:n.3501dup
ENST00000682288.1:c.*1866dup	ENSP00000507506.1:n.*1866dup
ENST00000682442.1:n.3724dup
ENST00000682528.1:n.3581dup
ENST00000682673.1:n.3448dup
ENST00000682805.1:n.3501dup
ENST00000682965.1:c.3396+860dup	ENSP00000508229.1:n.3396+860dup
ENST00000683093.1:n.3603dup
ENST00000683136.1:c.3432dup	ENSP00000507768.1:p.Thr1145HisfsTer?
ENST00000683153.1:n.3660dup
ENST00000683365.1:n.3606dup
ENST00000683377.1:n.3504dup
ENST00000683456.1:c.*572dup	ENSP00000508318.1:n.*572dup
ENST00000683522.1:n.3504dup
ENST00000683562.1:c.*1604dup	ENSP00000508265.1:n.*1604dup
ENST00000683693.1:n.3581dup
ENST00000683725.1:c.3435dup	ENSP00000507496.1:p.Thr1146HisfsTer?
ENST00000684010.1:n.3499dup
ENST00000684157.1:n.3504dup
ENST00000684253.1:n.3407dup
ENST00000684288.1:c.*1607dup	ENSP00000507143.1:n.*1607dup
ENST00000684313.1:n.2936dup
ENST00000684332.1:n.3577dup
ENST00000684371.1:n.3610dup
ENST00000684404.1:n.3547dup
ENST00000684442.1:n.3504dup
ENST00000684555.1:c.*1647dup	ENSP00000507705.1:n.*1647dup
ENST00000684571.1:c.3276dup	ENSP00000506935.1:p.Thr1093HisfsTer?
ENST00000684593.1:c.*3140dup	ENSP00000507005.1:n.*3140dup
ENST00000684711.1:c.*1831dup	ENSP00000506841.1:n.*1831dup
ENST00000302539.9:c.3438dup	ENSP00000303960.4:p.Thr1147HisfsTer?
ENST00000389817.8:c.3435dup MANE Select	ENSP00000374467.4:p.Thr1146HisfsTer?
ENST00000642271.1:c.3432dup	ENSP00000493749.1:p.Thr1145HisfsTer?
ENST00000642579.1:c.1519dup
ENST00000642611.1:n.3389dup
ENST00000642902.1:c.3217dup
ENST00000643260.1:c.3435dup	ENSP00000494450.1:p.Thr1146HisfsTer?
ENST00000643562.1:c.*1411dup	ENSP00000496124.1:n.*1411dup
ENST00000643925.1:c.1559dup
ENST00000644447.1:c.1791dup	ENSP00000496282.1:p.Thr598HisfsTer?
ENST00000644484.1:c.*1690dup	ENSP00000493558.1:n.*1690dup
ENST00000644675.1:c.*1607dup	ENSP00000494567.1:n.*1607dup
ENST00000644757.1:c.*1720dup	ENSP00000495085.1:n.*1720dup
ENST00000644772.1:c.3501dup	ENSP00000494321.1:p.Thr1168HisfsTer?
ENST00000645004.1:n.574dup
ENST00000645076.1:c.2634dup
ENST00000645417.1:c.601dup
ENST00000645744.1:c.*1699dup	ENSP00000494564.1:n.*1699dup
ENST00000645760.1:c.3710dup
ENST00000645884.1:c.*572dup	ENSP00000495516.1:n.*572dup
ENST00000646003.1:c.*1391dup	ENSP00000495259.1:n.*1391dup
ENST00000646207.1:c.*1902dup	ENSP00000495025.1:n.*1902dup
ENST00000646276.1:c.*1708dup	ENSP00000496070.1:n.*1708dup
ENST00000646592.1:c.2741dup
ENST00000646902.1:c.3432dup	ENSP00000494101.1:p.Thr1145HisfsTer?
ENST00000646993.1:c.*1831dup	ENSP00000493720.1:n.*1831dup
ENST00000647013.1:c.3441dup	ENSP00000496741.1:n.3441dup
ENST00000647015.1:c.3186dup	ENSP00000495389.1:p.Thr1063HisfsTer?
ENST00000647086.1:c.*3165dup	ENSP00000493677.1:n.*3165dup
ENST00000647158.1:c.*1576dup	ENSP00000495744.1:n.*1576dup
ENST00000302539.8:c.3438dup	ENSP00000303960.4:p.Thr1147HisfsTer?
ENST00000389817.7:c.3435dup	ENSP00000374467.3:p.Thr1146HisfsTer?
ENST00000524561.1:n.567dup
ENST00000527905.5:c.*311dup	ENSP00000431653.1:n.*311dup
NM_000352.4:c.3435dup	NP_000343.2:p.Thr1146HisfsTer?
NM_001287174.1:c.3438dup	NP_001274103.1:p.Thr1147HisfsTer?
XM_011520331.1:c.3435dup	XP_011518633.1:p.Thr1146HisfsTer?
XM_011520332.1:c.3438dup	XP_011518634.1:p.Thr1147HisfsTer?
XM_011520333.1:c.1935dup	XP_011518635.1:p.Thr646HisfsTer?
XR_930890.1:n.3501dup
XR_930892.1:n.3401dup
XR_930893.1:n.3398dup
NM_001351295.1:c.3501dup	NP_001338224.1:p.Thr1168HisfsTer?
NM_001351296.1:c.3435dup	NP_001338225.1:p.Thr1146HisfsTer?
NM_001351297.1:c.3432dup	NP_001338226.1:p.Thr1145HisfsTer?
NR_147094.1:n.3584dup
XM_017018197.2:c.3504dup	XP_016873686.1:p.Thr1169HisfsTer?
XM_017018199.1:c.3501dup	XP_016873688.1:p.Thr1168HisfsTer?
XM_017018201.2:c.3504dup	XP_016873690.1:p.Thr1169HisfsTer?
XM_017018202.1:c.2001dup	XP_016873691.1:p.Thr668HisfsTer?
XM_017018204.1:c.1392dup	XP_016873693.1:p.Thr465HisfsTer?
XM_024448668.1:c.1803dup	XP_024304436.1:p.Thr602HisfsTer?
XR_001747945.2:n.3576dup
XR_001747946.2:n.3507dup
XR_002957189.1:n.3656dup
NM_000352.6:c.3435dup MANE Select	NP_000343.2:p.Thr1146HisfsTer?
NM_001287174.2:c.3438dup	NP_001274103.1:p.Thr1147HisfsTer?
NM_001351295.2:c.3501dup	NP_001338224.1:p.Thr1168HisfsTer?
NM_001351296.2:c.3435dup	NP_001338225.1:p.Thr1146HisfsTer?
NM_001351297.2:c.3432dup	NP_001338226.1:p.Thr1145HisfsTer?
NR_147094.2:n.3584dup
NM_001287174.3:c.3438dup	NP_001274103.1:p.Thr1147HisfsTer?