Canonical Allele Identifier: CA1955127612

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404623_17404625delinsCAG , CM000673.2:g.17404623_17404625delinsCAG	GRCh38
NC_000011.9:g.17426170_17426172delinsCAG , CM000673.1:g.17426170_17426172delinsCAG	GRCh37
NC_000011.8:g.17382746_17382748delinsCAG	NCBI36
NG_008867.1:g.77278_77280delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3013_3015delinsCTG
ENST00000528374.2:c.23_25delinsCTG
ENST00000529967.6:n.1783_1785delinsCTG
ENST00000532220.2:n.1176_1178delinsCTG
ENST00000642611.2:n.3513_3515delinsCTG
ENST00000645004.2:n.943_945delinsCTG
ENST00000682051.1:n.3460_3462delinsCTG
ENST00000682110.1:n.3513_3515delinsCTG
ENST00000682140.1:c.3441_3443delinsCTG	ENSP00000507829.1:p.Leu1147=
ENST00000682185.1:n.4749_4751delinsCTG
ENST00000682204.1:c.*1582_*1584delinsCTG	ENSP00000507094.1:n.*1582_*1584delinsCTG
ENST00000682215.1:n.3510_3512delinsCTG
ENST00000682288.1:c.*1875_*1877delinsCTG	ENSP00000507506.1:n.*1875_*1877delinsCTG
ENST00000682442.1:n.3733_3735delinsCTG
ENST00000682528.1:n.3590_3592delinsCTG
ENST00000682673.1:n.3457_3459delinsCTG
ENST00000682805.1:n.3510_3512delinsCTG
ENST00000682965.1:c.3396+869_3396+871delinsCTG	ENSP00000508229.1:n.3396+869_3396+871delinsCTG
ENST00000683093.1:n.3612_3614delinsCTG
ENST00000683136.1:c.3441_3443delinsCTG	ENSP00000507768.1:p.Leu1147=
ENST00000683153.1:n.3669_3671delinsCTG
ENST00000683365.1:n.3615_3617delinsCTG
ENST00000683377.1:n.3513_3515delinsCTG
ENST00000683456.1:c.*581_*583delinsCTG	ENSP00000508318.1:n.*581_*583delinsCTG
ENST00000683522.1:n.3513_3515delinsCTG
ENST00000683562.1:c.*1613_*1615delinsCTG	ENSP00000508265.1:n.*1613_*1615delinsCTG
ENST00000683693.1:n.3590_3592delinsCTG
ENST00000683725.1:c.3444_3446delinsCTG	ENSP00000507496.1:p.Leu1148=
ENST00000684010.1:n.3508_3510delinsCTG
ENST00000684157.1:n.3513_3515delinsCTG
ENST00000684253.1:n.3416_3418delinsCTG
ENST00000684288.1:c.*1616_*1618delinsCTG	ENSP00000507143.1:n.*1616_*1618delinsCTG
ENST00000684313.1:n.2945_2947delinsCTG
ENST00000684332.1:n.3586_3588delinsCTG
ENST00000684371.1:n.3619_3621delinsCTG
ENST00000684404.1:n.3556_3558delinsCTG
ENST00000684442.1:n.3513_3515delinsCTG
ENST00000684555.1:c.*1656_*1658delinsCTG	ENSP00000507705.1:n.*1656_*1658delinsCTG
ENST00000684571.1:c.3285_3287delinsCTG	ENSP00000506935.1:p.Leu1095=
ENST00000684593.1:c.*3149_*3151delinsCTG	ENSP00000507005.1:n.*3149_*3151delinsCTG
ENST00000684711.1:c.*1840_*1842delinsCTG	ENSP00000506841.1:n.*1840_*1842delinsCTG
ENST00000302539.9:c.3447_3449delinsCTG	ENSP00000303960.4:p.Leu1149=
ENST00000389817.8:c.3444_3446delinsCTG MANE Select	ENSP00000374467.4:p.Leu1148=
ENST00000642271.1:c.3441_3443delinsCTG	ENSP00000493749.1:p.Leu1147=
ENST00000642579.1:c.1528_1530delinsCTG
ENST00000642611.1:n.3398_3400delinsCTG
ENST00000642902.1:c.3226_3228delinsCTG
ENST00000643260.1:c.3444_3446delinsCTG	ENSP00000494450.1:p.Leu1148=
ENST00000643562.1:c.*1420_*1422delinsCTG	ENSP00000496124.1:n.*1420_*1422delinsCTG
ENST00000643925.1:c.1568_1570delinsCTG
ENST00000644447.1:c.1800_1802delinsCTG	ENSP00000496282.1:p.Leu600=
ENST00000644484.1:c.*1699_*1701delinsCTG	ENSP00000493558.1:n.*1699_*1701delinsCTG
ENST00000644675.1:c.*1616_*1618delinsCTG	ENSP00000494567.1:n.*1616_*1618delinsCTG
ENST00000644757.1:c.*1729_*1731delinsCTG	ENSP00000495085.1:n.*1729_*1731delinsCTG
ENST00000644772.1:c.3510_3512delinsCTG	ENSP00000494321.1:p.Leu1170=
ENST00000645004.1:n.583_585delinsCTG
ENST00000645076.1:c.2643_2645delinsCTG
ENST00000645417.1:c.610_612delinsCTG
ENST00000645744.1:c.*1708_*1710delinsCTG	ENSP00000494564.1:n.*1708_*1710delinsCTG
ENST00000645760.1:c.3719_3721delinsCTG
ENST00000645884.1:c.*581_*583delinsCTG	ENSP00000495516.1:n.*581_*583delinsCTG
ENST00000646003.1:c.*1400_*1402delinsCTG	ENSP00000495259.1:n.*1400_*1402delinsCTG
ENST00000646207.1:c.*1911_*1913delinsCTG	ENSP00000495025.1:n.*1911_*1913delinsCTG
ENST00000646276.1:c.*1717_*1719delinsCTG	ENSP00000496070.1:n.*1717_*1719delinsCTG
ENST00000646592.1:c.2750_2752delinsCTG
ENST00000646902.1:c.3441_3443delinsCTG	ENSP00000494101.1:p.Leu1147=
ENST00000646993.1:c.*1840_*1842delinsCTG	ENSP00000493720.1:n.*1840_*1842delinsCTG
ENST00000647013.1:c.3450_3452delinsCTG	ENSP00000496741.1:n.3450_3452delinsCTG
ENST00000647015.1:c.3195_3197delinsCTG	ENSP00000495389.1:p.Leu1065=
ENST00000647086.1:c.*3174_*3176delinsCTG	ENSP00000493677.1:n.*3174_*3176delinsCTG
ENST00000647158.1:c.*1585_*1587delinsCTG	ENSP00000495744.1:n.*1585_*1587delinsCTG
ENST00000302539.8:c.3447_3449delinsCTG	ENSP00000303960.4:p.Leu1149=
ENST00000389817.7:c.3444_3446delinsCTG	ENSP00000374467.3:p.Leu1148=
ENST00000524561.1:n.576_578delinsCTG
ENST00000527905.5:c.*320_*322delinsCTG	ENSP00000431653.1:n.*320_*322delinsCTG
NM_000352.4:c.3444_3446delinsCTG	NP_000343.2:p.Leu1148=
NM_001287174.1:c.3447_3449delinsCTG	NP_001274103.1:p.Leu1149=
XM_011520331.1:c.3444_3446delinsCTG	XP_011518633.1:p.Leu1148=
XM_011520332.1:c.3447_3449delinsCTG	XP_011518634.1:p.Leu1149=
XM_011520333.1:c.1944_1946delinsCTG	XP_011518635.1:p.Leu648=
XR_930890.1:n.3510_3512delinsCTG
XR_930892.1:n.3410_3412delinsCTG
XR_930893.1:n.3407_3409delinsCTG
NM_001351295.1:c.3510_3512delinsCTG	NP_001338224.1:p.Leu1170=
NM_001351296.1:c.3444_3446delinsCTG	NP_001338225.1:p.Leu1148=
NM_001351297.1:c.3441_3443delinsCTG	NP_001338226.1:p.Leu1147=
NR_147094.1:n.3593_3595delinsCTG
XM_017018197.2:c.3513_3515delinsCTG	XP_016873686.1:p.Leu1171=
XM_017018199.1:c.3510_3512delinsCTG	XP_016873688.1:p.Leu1170=
XM_017018201.2:c.3513_3515delinsCTG	XP_016873690.1:p.Leu1171=
XM_017018202.1:c.2010_2012delinsCTG	XP_016873691.1:p.Leu670=
XM_017018204.1:c.1401_1403delinsCTG	XP_016873693.1:p.Leu467=
XM_024448668.1:c.1812_1814delinsCTG	XP_024304436.1:p.Leu604=
XR_001747945.2:n.3585_3587delinsCTG
XR_001747946.2:n.3516_3518delinsCTG
XR_002957189.1:n.3665_3667delinsCTG
NM_000352.6:c.3444_3446delinsCTG MANE Select	NP_000343.2:p.Leu1148=
NM_001287174.2:c.3447_3449delinsCTG	NP_001274103.1:p.Leu1149=
NM_001351295.2:c.3510_3512delinsCTG	NP_001338224.1:p.Leu1170=
NM_001351296.2:c.3444_3446delinsCTG	NP_001338225.1:p.Leu1148=
NM_001351297.2:c.3441_3443delinsCTG	NP_001338226.1:p.Leu1147=
NR_147094.2:n.3593_3595delinsCTG
NM_001287174.3:c.3447_3449delinsCTG	NP_001274103.1:p.Leu1149=