Canonical Allele Identifier: CA1955127579

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404564_17404565delinsGC , CM000673.2:g.17404564_17404565delinsGC	GRCh38
NC_000011.9:g.17426111_17426112delinsGC , CM000673.1:g.17426111_17426112delinsGC	GRCh37
NC_000011.8:g.17382687_17382688delinsGC	NCBI36
NG_008867.1:g.77338_77339delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3073_3074delinsGC
ENST00000528374.2:c.83_84delinsGC
ENST00000529967.6:n.1843_1844delinsGC
ENST00000532220.2:n.1236_1237delinsGC
ENST00000642611.2:n.3573_3574delinsGC
ENST00000645004.2:n.1003_1004delinsGC
ENST00000682051.1:n.3520_3521delinsGC
ENST00000682110.1:n.3573_3574delinsGC
ENST00000682140.1:c.3501_3502delinsGC	ENSP00000507829.1:p.Leu1167=
ENST00000682185.1:n.4809_4810delinsGC
ENST00000682204.1:c.*1642_*1643delinsGC	ENSP00000507094.1:n.*1642_*1643delinsGC
ENST00000682215.1:n.3570_3571delinsGC
ENST00000682288.1:c.*1935_*1936delinsGC	ENSP00000507506.1:n.*1935_*1936delinsGC
ENST00000682442.1:n.3793_3794delinsGC
ENST00000682528.1:n.3650_3651delinsGC
ENST00000682673.1:n.3517_3518delinsGC
ENST00000682805.1:n.3570_3571delinsGC
ENST00000682965.1:c.3396+929_3396+930delinsGC	ENSP00000508229.1:n.3396+929_3396+930deli...
ENST00000683093.1:n.3672_3673delinsGC
ENST00000683136.1:c.3501_3502delinsGC	ENSP00000507768.1:p.Leu1167=
ENST00000683153.1:n.3729_3730delinsGC
ENST00000683365.1:n.3675_3676delinsGC
ENST00000683377.1:n.3573_3574delinsGC
ENST00000683456.1:c.*641_*642delinsGC	ENSP00000508318.1:n.*641_*642delinsGC
ENST00000683522.1:n.3573_3574delinsGC
ENST00000683562.1:c.*1673_*1674delinsGC	ENSP00000508265.1:n.*1673_*1674delinsGC
ENST00000683693.1:n.3650_3651delinsGC
ENST00000683725.1:c.3504_3505delinsGC	ENSP00000507496.1:p.Leu1168=
ENST00000684010.1:n.3568_3569delinsGC
ENST00000684157.1:n.3573_3574delinsGC
ENST00000684253.1:n.3476_3477delinsGC
ENST00000684288.1:c.*1676_*1677delinsGC	ENSP00000507143.1:n.*1676_*1677delinsGC
ENST00000684313.1:n.3005_3006delinsGC
ENST00000684332.1:n.3646_3647delinsGC
ENST00000684371.1:n.3679_3680delinsGC
ENST00000684404.1:n.3616_3617delinsGC
ENST00000684442.1:n.3573_3574delinsGC
ENST00000684555.1:c.*1716_*1717delinsGC	ENSP00000507705.1:n.*1716_*1717delinsGC
ENST00000684571.1:c.3345_3346delinsGC	ENSP00000506935.1:p.Leu1115=
ENST00000684593.1:c.*3209_*3210delinsGC	ENSP00000507005.1:n.*3209_*3210delinsGC
ENST00000684711.1:c.*1900_*1901delinsGC	ENSP00000506841.1:n.*1900_*1901delinsGC
ENST00000302539.9:c.3507_3508delinsGC	ENSP00000303960.4:p.Leu1169=
ENST00000389817.8:c.3504_3505delinsGC MANE Select	ENSP00000374467.4:p.Leu1168=
ENST00000642271.1:c.3501_3502delinsGC	ENSP00000493749.1:p.Leu1167=
ENST00000642579.1:c.1588_1589delinsGC
ENST00000642611.1:n.3458_3459delinsGC
ENST00000642902.1:c.3286_3287delinsGC
ENST00000643260.1:c.3504_3505delinsGC	ENSP00000494450.1:p.Leu1168=
ENST00000643562.1:c.*1480_*1481delinsGC	ENSP00000496124.1:n.*1480_*1481delinsGC
ENST00000643925.1:c.1628_1629delinsGC
ENST00000644447.1:c.1860_1861delinsGC	ENSP00000496282.1:p.Leu620=
ENST00000644484.1:c.*1759_*1760delinsGC	ENSP00000493558.1:n.*1759_*1760delinsGC
ENST00000644675.1:c.*1676_*1677delinsGC	ENSP00000494567.1:n.*1676_*1677delinsGC
ENST00000644757.1:c.*1789_*1790delinsGC	ENSP00000495085.1:n.*1789_*1790delinsGC
ENST00000644772.1:c.3570_3571delinsGC	ENSP00000494321.1:p.Leu1190=
ENST00000645004.1:n.643_644delinsGC
ENST00000645076.1:c.2703_2704delinsGC
ENST00000645417.1:c.670_671delinsGC
ENST00000645744.1:c.*1768_*1769delinsGC	ENSP00000494564.1:n.*1768_*1769delinsGC
ENST00000645760.1:c.3779_3780delinsGC
ENST00000645884.1:c.*641_*642delinsGC	ENSP00000495516.1:n.*641_*642delinsGC
ENST00000646003.1:c.*1460_*1461delinsGC	ENSP00000495259.1:n.*1460_*1461delinsGC
ENST00000646207.1:c.*1971_*1972delinsGC	ENSP00000495025.1:n.*1971_*1972delinsGC
ENST00000646276.1:c.*1777_*1778delinsGC	ENSP00000496070.1:n.*1777_*1778delinsGC
ENST00000646592.1:c.2810_2811delinsGC
ENST00000646902.1:c.3501_3502delinsGC	ENSP00000494101.1:p.Leu1167=
ENST00000646993.1:c.*1900_*1901delinsGC	ENSP00000493720.1:n.*1900_*1901delinsGC
ENST00000647013.1:c.3510_3511delinsGC	ENSP00000496741.1:n.3510_3511delinsGC
ENST00000647015.1:c.3255_3256delinsGC	ENSP00000495389.1:p.Leu1085=
ENST00000647086.1:c.*3234_*3235delinsGC	ENSP00000493677.1:n.*3234_*3235delinsGC
ENST00000647158.1:c.*1645_*1646delinsGC	ENSP00000495744.1:n.*1645_*1646delinsGC
ENST00000302539.8:c.3507_3508delinsGC	ENSP00000303960.4:p.Leu1169=
ENST00000389817.7:c.3504_3505delinsGC	ENSP00000374467.3:p.Leu1168=
ENST00000524561.1:n.636_637delinsGC
ENST00000527905.5:c.*380_*381delinsGC	ENSP00000431653.1:n.*380_*381delinsGC
NM_000352.4:c.3504_3505delinsGC	NP_000343.2:p.Leu1168=
NM_001287174.1:c.3507_3508delinsGC	NP_001274103.1:p.Leu1169=
XM_011520331.1:c.3504_3505delinsGC	XP_011518633.1:p.Leu1168=
XM_011520332.1:c.3507_3508delinsGC	XP_011518634.1:p.Leu1169=
XM_011520333.1:c.2004_2005delinsGC	XP_011518635.1:p.Leu668=
XR_930890.1:n.3570_3571delinsGC
XR_930892.1:n.3470_3471delinsGC
XR_930893.1:n.3467_3468delinsGC
NM_001351295.1:c.3570_3571delinsGC	NP_001338224.1:p.Leu1190=
NM_001351296.1:c.3504_3505delinsGC	NP_001338225.1:p.Leu1168=
NM_001351297.1:c.3501_3502delinsGC	NP_001338226.1:p.Leu1167=
NR_147094.1:n.3653_3654delinsGC
XM_017018197.2:c.3573_3574delinsGC	XP_016873686.1:p.Leu1191=
XM_017018199.1:c.3570_3571delinsGC	XP_016873688.1:p.Leu1190=
XM_017018201.2:c.3573_3574delinsGC	XP_016873690.1:p.Leu1191=
XM_017018202.1:c.2070_2071delinsGC	XP_016873691.1:p.Leu690=
XM_017018204.1:c.1461_1462delinsGC	XP_016873693.1:p.Leu487=
XM_024448668.1:c.1872_1873delinsGC	XP_024304436.1:p.Leu624=
XR_001747945.2:n.3645_3646delinsGC
XR_001747946.2:n.3576_3577delinsGC
XR_002957189.1:n.3725_3726delinsGC
NM_000352.6:c.3504_3505delinsGC MANE Select	NP_000343.2:p.Leu1168=
NM_001287174.2:c.3507_3508delinsGC	NP_001274103.1:p.Leu1169=
NM_001351295.2:c.3570_3571delinsGC	NP_001338224.1:p.Leu1190=
NM_001351296.2:c.3504_3505delinsGC	NP_001338225.1:p.Leu1168=
NM_001351297.2:c.3501_3502delinsGC	NP_001338226.1:p.Leu1167=
NR_147094.2:n.3653_3654delinsGC
NM_001287174.3:c.3507_3508delinsGC	NP_001274103.1:p.Leu1169=