Canonical Allele Identifier: CA2573146140

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 1455676
• ClinVar RCV Id: RCV001946675
• dbSNP Id: rs2133439017

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404632del , CM000673.2:g.17404632del	GRCh38
NC_000011.9:g.17426179del , CM000673.1:g.17426179del	GRCh37
NC_000011.8:g.17382755del	NCBI36
NG_008867.1:g.77273del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3008del
ENST00000528374.2:c.18del
ENST00000529967.6:n.1778del
ENST00000532220.2:n.1171del
ENST00000642611.2:n.3508del
ENST00000645004.2:n.938del
ENST00000682051.1:n.3455del
ENST00000682110.1:n.3508del
ENST00000682140.1:c.3436del	ENSP00000507829.1:p.Leu1146CysfsTer?
ENST00000682185.1:n.4744del
ENST00000682204.1:c.*1577del	ENSP00000507094.1:n.*1577del
ENST00000682215.1:n.3505del
ENST00000682288.1:c.*1870del	ENSP00000507506.1:n.*1870del
ENST00000682442.1:n.3728del
ENST00000682528.1:n.3585del
ENST00000682673.1:n.3452del
ENST00000682805.1:n.3505del
ENST00000682965.1:c.3396+864del	ENSP00000508229.1:n.3396+864del
ENST00000683093.1:n.3607del
ENST00000683136.1:c.3436del	ENSP00000507768.1:p.Leu1146CysfsTer?
ENST00000683153.1:n.3664del
ENST00000683365.1:n.3610del
ENST00000683377.1:n.3508del
ENST00000683456.1:c.*576del	ENSP00000508318.1:n.*576del
ENST00000683522.1:n.3508del
ENST00000683562.1:c.*1608del	ENSP00000508265.1:n.*1608del
ENST00000683693.1:n.3585del
ENST00000683725.1:c.3439del	ENSP00000507496.1:p.Leu1147CysfsTer?
ENST00000684010.1:n.3503del
ENST00000684157.1:n.3508del
ENST00000684253.1:n.3411del
ENST00000684288.1:c.*1611del	ENSP00000507143.1:n.*1611del
ENST00000684313.1:n.2940del
ENST00000684332.1:n.3581del
ENST00000684371.1:n.3614del
ENST00000684404.1:n.3551del
ENST00000684442.1:n.3508del
ENST00000684555.1:c.*1651del	ENSP00000507705.1:n.*1651del
ENST00000684571.1:c.3280del	ENSP00000506935.1:p.Leu1094CysfsTer?
ENST00000684593.1:c.*3144del	ENSP00000507005.1:n.*3144del
ENST00000684711.1:c.*1835del	ENSP00000506841.1:n.*1835del
ENST00000302539.9:c.3442del	ENSP00000303960.4:p.Leu1148CysfsTer?
ENST00000389817.8:c.3439del MANE Select	ENSP00000374467.4:p.Leu1147CysfsTer?
ENST00000642271.1:c.3436del	ENSP00000493749.1:p.Leu1146CysfsTer?
ENST00000642579.1:c.1523del
ENST00000642611.1:n.3393del
ENST00000642902.1:c.3221del
ENST00000643260.1:c.3439del	ENSP00000494450.1:p.Leu1147CysfsTer?
ENST00000643562.1:c.*1415del	ENSP00000496124.1:n.*1415del
ENST00000643925.1:c.1563del
ENST00000644447.1:c.1795del	ENSP00000496282.1:p.Leu599CysfsTer?
ENST00000644484.1:c.*1694del	ENSP00000493558.1:n.*1694del
ENST00000644675.1:c.*1611del	ENSP00000494567.1:n.*1611del
ENST00000644757.1:c.*1724del	ENSP00000495085.1:n.*1724del
ENST00000644772.1:c.3505del	ENSP00000494321.1:p.Leu1169CysfsTer?
ENST00000645004.1:n.578del
ENST00000645076.1:c.2638del
ENST00000645417.1:c.605del
ENST00000645744.1:c.*1703del	ENSP00000494564.1:n.*1703del
ENST00000645760.1:c.3714del
ENST00000645884.1:c.*576del	ENSP00000495516.1:n.*576del
ENST00000646003.1:c.*1395del	ENSP00000495259.1:n.*1395del
ENST00000646207.1:c.*1906del	ENSP00000495025.1:n.*1906del
ENST00000646276.1:c.*1712del	ENSP00000496070.1:n.*1712del
ENST00000646592.1:c.2745del
ENST00000646902.1:c.3436del	ENSP00000494101.1:p.Leu1146CysfsTer?
ENST00000646993.1:c.*1835del	ENSP00000493720.1:n.*1835del
ENST00000647013.1:c.3445del	ENSP00000496741.1:n.3445del
ENST00000647015.1:c.3190del	ENSP00000495389.1:p.Leu1064CysfsTer?
ENST00000647086.1:c.*3169del	ENSP00000493677.1:n.*3169del
ENST00000647158.1:c.*1580del	ENSP00000495744.1:n.*1580del
ENST00000302539.8:c.3442del	ENSP00000303960.4:p.Leu1148CysfsTer?
ENST00000389817.7:c.3439del	ENSP00000374467.3:p.Leu1147CysfsTer?
ENST00000524561.1:n.571del
ENST00000527905.5:c.*315del	ENSP00000431653.1:n.*315del
NM_000352.4:c.3439del	NP_000343.2:p.Leu1147CysfsTer?
NM_001287174.1:c.3442del	NP_001274103.1:p.Leu1148CysfsTer?
XM_011520331.1:c.3439del	XP_011518633.1:p.Leu1147CysfsTer?
XM_011520332.1:c.3442del	XP_011518634.1:p.Leu1148CysfsTer?
XM_011520333.1:c.1939del	XP_011518635.1:p.Leu647CysfsTer?
XR_930890.1:n.3505del
XR_930892.1:n.3405del
XR_930893.1:n.3402del
NM_001351295.1:c.3505del	NP_001338224.1:p.Leu1169CysfsTer?
NM_001351296.1:c.3439del	NP_001338225.1:p.Leu1147CysfsTer?
NM_001351297.1:c.3436del	NP_001338226.1:p.Leu1146CysfsTer?
NR_147094.1:n.3588del
XM_017018197.2:c.3508del	XP_016873686.1:p.Leu1170CysfsTer?
XM_017018199.1:c.3505del	XP_016873688.1:p.Leu1169CysfsTer?
XM_017018201.2:c.3508del	XP_016873690.1:p.Leu1170CysfsTer?
XM_017018202.1:c.2005del	XP_016873691.1:p.Leu669CysfsTer?
XM_017018204.1:c.1396del	XP_016873693.1:p.Leu466CysfsTer?
XM_024448668.1:c.1807del	XP_024304436.1:p.Leu603CysfsTer?
XR_001747945.2:n.3580del
XR_001747946.2:n.3511del
XR_002957189.1:n.3660del
NM_000352.6:c.3439del MANE Select	NP_000343.2:p.Leu1147CysfsTer?
NM_001287174.2:c.3442del	NP_001274103.1:p.Leu1148CysfsTer?
NM_001351295.2:c.3505del	NP_001338224.1:p.Leu1169CysfsTer?
NM_001351296.2:c.3439del	NP_001338225.1:p.Leu1147CysfsTer?
NM_001351297.2:c.3436del	NP_001338226.1:p.Leu1146CysfsTer?
NR_147094.2:n.3588del
NM_001287174.3:c.3442del	NP_001274103.1:p.Leu1148CysfsTer?