Canonical Allele Identifier: CA1955127583

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404569_17404570delinsAG , CM000673.2:g.17404569_17404570delinsAG	GRCh38
NC_000011.9:g.17426116_17426117delinsAG , CM000673.1:g.17426116_17426117delinsAG	GRCh37
NC_000011.8:g.17382692_17382693delinsAG	NCBI36
NG_008867.1:g.77333_77334delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3068_3069delinsCT
ENST00000528374.2:c.78_79delinsCT
ENST00000529967.6:n.1838_1839delinsCT
ENST00000532220.2:n.1231_1232delinsCT
ENST00000642611.2:n.3568_3569delinsCT
ENST00000645004.2:n.998_999delinsCT
ENST00000682051.1:n.3515_3516delinsCT
ENST00000682110.1:n.3568_3569delinsCT
ENST00000682140.1:c.3496_3497delinsCT	ENSP00000507829.1:p.Leu1166=
ENST00000682185.1:n.4804_4805delinsCT
ENST00000682204.1:c.*1637_*1638delinsCT	ENSP00000507094.1:n.*1637_*1638delinsCT
ENST00000682215.1:n.3565_3566delinsCT
ENST00000682288.1:c.*1930_*1931delinsCT	ENSP00000507506.1:n.*1930_*1931delinsCT
ENST00000682442.1:n.3788_3789delinsCT
ENST00000682528.1:n.3645_3646delinsCT
ENST00000682673.1:n.3512_3513delinsCT
ENST00000682805.1:n.3565_3566delinsCT
ENST00000682965.1:c.3396+924_3396+925delinsCT	ENSP00000508229.1:n.3396+924_3396+925delinsCT
ENST00000683093.1:n.3667_3668delinsCT
ENST00000683136.1:c.3496_3497delinsCT	ENSP00000507768.1:p.Leu1166=
ENST00000683153.1:n.3724_3725delinsCT
ENST00000683365.1:n.3670_3671delinsCT
ENST00000683377.1:n.3568_3569delinsCT
ENST00000683456.1:c.*636_*637delinsCT	ENSP00000508318.1:n.*636_*637delinsCT
ENST00000683522.1:n.3568_3569delinsCT
ENST00000683562.1:c.*1668_*1669delinsCT	ENSP00000508265.1:n.*1668_*1669delinsCT
ENST00000683693.1:n.3645_3646delinsCT
ENST00000683725.1:c.3499_3500delinsCT	ENSP00000507496.1:p.Leu1167=
ENST00000684010.1:n.3563_3564delinsCT
ENST00000684157.1:n.3568_3569delinsCT
ENST00000684253.1:n.3471_3472delinsCT
ENST00000684288.1:c.*1671_*1672delinsCT	ENSP00000507143.1:n.*1671_*1672delinsCT
ENST00000684313.1:n.3000_3001delinsCT
ENST00000684332.1:n.3641_3642delinsCT
ENST00000684371.1:n.3674_3675delinsCT
ENST00000684404.1:n.3611_3612delinsCT
ENST00000684442.1:n.3568_3569delinsCT
ENST00000684555.1:c.*1711_*1712delinsCT	ENSP00000507705.1:n.*1711_*1712delinsCT
ENST00000684571.1:c.3340_3341delinsCT	ENSP00000506935.1:p.Leu1114=
ENST00000684593.1:c.*3204_*3205delinsCT	ENSP00000507005.1:n.*3204_*3205delinsCT
ENST00000684711.1:c.*1895_*1896delinsCT	ENSP00000506841.1:n.*1895_*1896delinsCT
ENST00000302539.9:c.3502_3503delinsCT	ENSP00000303960.4:p.Leu1168=
ENST00000389817.8:c.3499_3500delinsCT MANE Select	ENSP00000374467.4:p.Leu1167=
ENST00000642271.1:c.3496_3497delinsCT	ENSP00000493749.1:p.Leu1166=
ENST00000642579.1:c.1583_1584delinsCT
ENST00000642611.1:n.3453_3454delinsCT
ENST00000642902.1:c.3281_3282delinsCT
ENST00000643260.1:c.3499_3500delinsCT	ENSP00000494450.1:p.Leu1167=
ENST00000643562.1:c.*1475_*1476delinsCT	ENSP00000496124.1:n.*1475_*1476delinsCT
ENST00000643925.1:c.1623_1624delinsCT
ENST00000644447.1:c.1855_1856delinsCT	ENSP00000496282.1:p.Leu619=
ENST00000644484.1:c.*1754_*1755delinsCT	ENSP00000493558.1:n.*1754_*1755delinsCT
ENST00000644675.1:c.*1671_*1672delinsCT	ENSP00000494567.1:n.*1671_*1672delinsCT
ENST00000644757.1:c.*1784_*1785delinsCT	ENSP00000495085.1:n.*1784_*1785delinsCT
ENST00000644772.1:c.3565_3566delinsCT	ENSP00000494321.1:p.Leu1189=
ENST00000645004.1:n.638_639delinsCT
ENST00000645076.1:c.2698_2699delinsCT
ENST00000645417.1:c.665_666delinsCT
ENST00000645744.1:c.*1763_*1764delinsCT	ENSP00000494564.1:n.*1763_*1764delinsCT
ENST00000645760.1:c.3774_3775delinsCT
ENST00000645884.1:c.*636_*637delinsCT	ENSP00000495516.1:n.*636_*637delinsCT
ENST00000646003.1:c.*1455_*1456delinsCT	ENSP00000495259.1:n.*1455_*1456delinsCT
ENST00000646207.1:c.*1966_*1967delinsCT	ENSP00000495025.1:n.*1966_*1967delinsCT
ENST00000646276.1:c.*1772_*1773delinsCT	ENSP00000496070.1:n.*1772_*1773delinsCT
ENST00000646592.1:c.2805_2806delinsCT
ENST00000646902.1:c.3496_3497delinsCT	ENSP00000494101.1:p.Leu1166=
ENST00000646993.1:c.*1895_*1896delinsCT	ENSP00000493720.1:n.*1895_*1896delinsCT
ENST00000647013.1:c.3505_3506delinsCT	ENSP00000496741.1:n.3505_3506delinsCT
ENST00000647015.1:c.3250_3251delinsCT	ENSP00000495389.1:p.Leu1084=
ENST00000647086.1:c.*3229_*3230delinsCT	ENSP00000493677.1:n.*3229_*3230delinsCT
ENST00000647158.1:c.*1640_*1641delinsCT	ENSP00000495744.1:n.*1640_*1641delinsCT
ENST00000302539.8:c.3502_3503delinsCT	ENSP00000303960.4:p.Leu1168=
ENST00000389817.7:c.3499_3500delinsCT	ENSP00000374467.3:p.Leu1167=
ENST00000524561.1:n.631_632delinsCT
ENST00000527905.5:c.*375_*376delinsCT	ENSP00000431653.1:n.*375_*376delinsCT
NM_000352.4:c.3499_3500delinsCT	NP_000343.2:p.Leu1167=
NM_001287174.1:c.3502_3503delinsCT	NP_001274103.1:p.Leu1168=
XM_011520331.1:c.3499_3500delinsCT	XP_011518633.1:p.Leu1167=
XM_011520332.1:c.3502_3503delinsCT	XP_011518634.1:p.Leu1168=
XM_011520333.1:c.1999_2000delinsCT	XP_011518635.1:p.Leu667=
XR_930890.1:n.3565_3566delinsCT
XR_930892.1:n.3465_3466delinsCT
XR_930893.1:n.3462_3463delinsCT
NM_001351295.1:c.3565_3566delinsCT	NP_001338224.1:p.Leu1189=
NM_001351296.1:c.3499_3500delinsCT	NP_001338225.1:p.Leu1167=
NM_001351297.1:c.3496_3497delinsCT	NP_001338226.1:p.Leu1166=
NR_147094.1:n.3648_3649delinsCT
XM_017018197.2:c.3568_3569delinsCT	XP_016873686.1:p.Leu1190=
XM_017018199.1:c.3565_3566delinsCT	XP_016873688.1:p.Leu1189=
XM_017018201.2:c.3568_3569delinsCT	XP_016873690.1:p.Leu1190=
XM_017018202.1:c.2065_2066delinsCT	XP_016873691.1:p.Leu689=
XM_017018204.1:c.1456_1457delinsCT	XP_016873693.1:p.Leu486=
XM_024448668.1:c.1867_1868delinsCT	XP_024304436.1:p.Leu623=
XR_001747945.2:n.3640_3641delinsCT
XR_001747946.2:n.3571_3572delinsCT
XR_002957189.1:n.3720_3721delinsCT
NM_000352.6:c.3499_3500delinsCT MANE Select	NP_000343.2:p.Leu1167=
NM_001287174.2:c.3502_3503delinsCT	NP_001274103.1:p.Leu1168=
NM_001351295.2:c.3565_3566delinsCT	NP_001338224.1:p.Leu1189=
NM_001351296.2:c.3499_3500delinsCT	NP_001338225.1:p.Leu1167=
NM_001351297.2:c.3496_3497delinsCT	NP_001338226.1:p.Leu1166=
NR_147094.2:n.3648_3649delinsCT
NM_001287174.3:c.3502_3503delinsCT	NP_001274103.1:p.Leu1168=