Canonical Allele Identifier: CA218417383

Gene: ABCC8

Linked Data

• dbSNP Id: rs764102191
• gnomAD v2: 11-17426170-CAG-C
• gnomAD v4: 11-17404623-CAG-C
• MyVariant Identifiers: chr11:g.17426171_17426172del (hg19) ; chr11:g.17404624_17404625del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404626_17404627del , CM000673.2:g.17404626_17404627del	GRCh38
NC_000011.9:g.17426173_17426174del , CM000673.1:g.17426173_17426174del	GRCh37
NC_000011.8:g.17382749_17382750del	NCBI36
NG_008867.1:g.77278_77279del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3013_3014del
ENST00000528374.2:c.23_24del
ENST00000529967.6:n.1783_1784del
ENST00000532220.2:n.1176_1177del
ENST00000642611.2:n.3513_3514del
ENST00000645004.2:n.943_944del
ENST00000682051.1:n.3460_3461del
ENST00000682110.1:n.3513_3514del
ENST00000682140.1:c.3441_3442del	ENSP00000507829.1:p.Val1149LeufsTer?
ENST00000682185.1:n.4749_4750del
ENST00000682204.1:c.*1582_*1583del	ENSP00000507094.1:n.*1582_*1583del
ENST00000682215.1:n.3510_3511del
ENST00000682288.1:c.*1875_*1876del	ENSP00000507506.1:n.*1875_*1876del
ENST00000682442.1:n.3733_3734del
ENST00000682528.1:n.3590_3591del
ENST00000682673.1:n.3457_3458del
ENST00000682805.1:n.3510_3511del
ENST00000682965.1:c.3396+869_3396+870del	ENSP00000508229.1:n.3396+869_3396+870del
ENST00000683093.1:n.3612_3613del
ENST00000683136.1:c.3441_3442del	ENSP00000507768.1:p.Val1149LeufsTer?
ENST00000683153.1:n.3669_3670del
ENST00000683365.1:n.3615_3616del
ENST00000683377.1:n.3513_3514del
ENST00000683456.1:c.*581_*582del	ENSP00000508318.1:n.*581_*582del
ENST00000683522.1:n.3513_3514del
ENST00000683562.1:c.*1613_*1614del	ENSP00000508265.1:n.*1613_*1614del
ENST00000683693.1:n.3590_3591del
ENST00000683725.1:c.3444_3445del	ENSP00000507496.1:p.Val1150LeufsTer?
ENST00000684010.1:n.3508_3509del
ENST00000684157.1:n.3513_3514del
ENST00000684253.1:n.3416_3417del
ENST00000684288.1:c.*1616_*1617del	ENSP00000507143.1:n.*1616_*1617del
ENST00000684313.1:n.2945_2946del
ENST00000684332.1:n.3586_3587del
ENST00000684371.1:n.3619_3620del
ENST00000684404.1:n.3556_3557del
ENST00000684442.1:n.3513_3514del
ENST00000684555.1:c.*1656_*1657del	ENSP00000507705.1:n.*1656_*1657del
ENST00000684571.1:c.3285_3286del	ENSP00000506935.1:p.Val1097LeufsTer?
ENST00000684593.1:c.*3149_*3150del	ENSP00000507005.1:n.*3149_*3150del
ENST00000684711.1:c.*1840_*1841del	ENSP00000506841.1:n.*1840_*1841del
ENST00000302539.9:c.3447_3448del	ENSP00000303960.4:p.Val1151LeufsTer?
ENST00000389817.8:c.3444_3445del MANE Select	ENSP00000374467.4:p.Val1150LeufsTer?
ENST00000642271.1:c.3441_3442del	ENSP00000493749.1:p.Val1149LeufsTer?
ENST00000642579.1:c.1528_1529del
ENST00000642611.1:n.3398_3399del
ENST00000642902.1:c.3226_3227del
ENST00000643260.1:c.3444_3445del	ENSP00000494450.1:p.Val1150LeufsTer?
ENST00000643562.1:c.*1420_*1421del	ENSP00000496124.1:n.*1420_*1421del
ENST00000643925.1:c.1568_1569del
ENST00000644447.1:c.1800_1801del	ENSP00000496282.1:p.Val602LeufsTer?
ENST00000644484.1:c.*1699_*1700del	ENSP00000493558.1:n.*1699_*1700del
ENST00000644675.1:c.*1616_*1617del	ENSP00000494567.1:n.*1616_*1617del
ENST00000644757.1:c.*1729_*1730del	ENSP00000495085.1:n.*1729_*1730del
ENST00000644772.1:c.3510_3511del	ENSP00000494321.1:p.Val1172LeufsTer?
ENST00000645004.1:n.583_584del
ENST00000645076.1:c.2643_2644del
ENST00000645417.1:c.610_611del
ENST00000645744.1:c.*1708_*1709del	ENSP00000494564.1:n.*1708_*1709del
ENST00000645760.1:c.3719_3720del
ENST00000645884.1:c.*581_*582del	ENSP00000495516.1:n.*581_*582del
ENST00000646003.1:c.*1400_*1401del	ENSP00000495259.1:n.*1400_*1401del
ENST00000646207.1:c.*1911_*1912del	ENSP00000495025.1:n.*1911_*1912del
ENST00000646276.1:c.*1717_*1718del	ENSP00000496070.1:n.*1717_*1718del
ENST00000646592.1:c.2750_2751del
ENST00000646902.1:c.3441_3442del	ENSP00000494101.1:p.Val1149LeufsTer?
ENST00000646993.1:c.*1840_*1841del	ENSP00000493720.1:n.*1840_*1841del
ENST00000647013.1:c.3450_3451del	ENSP00000496741.1:n.3450_3451del
ENST00000647015.1:c.3195_3196del	ENSP00000495389.1:p.Val1067LeufsTer?
ENST00000647086.1:c.*3174_*3175del	ENSP00000493677.1:n.*3174_*3175del
ENST00000647158.1:c.*1585_*1586del	ENSP00000495744.1:n.*1585_*1586del
ENST00000302539.8:c.3447_3448del	ENSP00000303960.4:p.Val1151LeufsTer?
ENST00000389817.7:c.3444_3445del	ENSP00000374467.3:p.Val1150LeufsTer?
ENST00000524561.1:n.576_577del
ENST00000527905.5:c.*320_*321del	ENSP00000431653.1:n.*320_*321del
NM_000352.4:c.3444_3445del	NP_000343.2:p.Val1150LeufsTer?
NM_001287174.1:c.3447_3448del	NP_001274103.1:p.Val1151LeufsTer?
XM_011520331.1:c.3444_3445del	XP_011518633.1:p.Val1150LeufsTer?
XM_011520332.1:c.3447_3448del	XP_011518634.1:p.Val1151LeufsTer?
XM_011520333.1:c.1944_1945del	XP_011518635.1:p.Val650LeufsTer?
XR_930890.1:n.3510_3511del
XR_930892.1:n.3410_3411del
XR_930893.1:n.3407_3408del
NM_001351295.1:c.3510_3511del	NP_001338224.1:p.Val1172LeufsTer?
NM_001351296.1:c.3444_3445del	NP_001338225.1:p.Val1150LeufsTer?
NM_001351297.1:c.3441_3442del	NP_001338226.1:p.Val1149LeufsTer?
NR_147094.1:n.3593_3594del
XM_017018197.2:c.3513_3514del	XP_016873686.1:p.Val1173LeufsTer?
XM_017018199.1:c.3510_3511del	XP_016873688.1:p.Val1172LeufsTer?
XM_017018201.2:c.3513_3514del	XP_016873690.1:p.Val1173LeufsTer?
XM_017018202.1:c.2010_2011del	XP_016873691.1:p.Val672LeufsTer?
XM_017018204.1:c.1401_1402del	XP_016873693.1:p.Val469LeufsTer?
XM_024448668.1:c.1812_1813del	XP_024304436.1:p.Val606LeufsTer?
XR_001747945.2:n.3585_3586del
XR_001747946.2:n.3516_3517del
XR_002957189.1:n.3665_3666del
NM_000352.6:c.3444_3445del MANE Select	NP_000343.2:p.Val1150LeufsTer?
NM_001287174.2:c.3447_3448del	NP_001274103.1:p.Val1151LeufsTer?
NM_001351295.2:c.3510_3511del	NP_001338224.1:p.Val1172LeufsTer?
NM_001351296.2:c.3444_3445del	NP_001338225.1:p.Val1150LeufsTer?
NM_001351297.2:c.3441_3442del	NP_001338226.1:p.Val1149LeufsTer?
NR_147094.2:n.3593_3594del
NM_001287174.3:c.3447_3448del	NP_001274103.1:p.Val1151LeufsTer?