Canonical Allele Identifier: CA2697551675

Gene: SACS

Linked Data

• ClinVar Variation Id: 2696234
• ClinVar RCV Id: RCV003589540

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338939del , CM000675.2:g.23338939del	GRCh38
NC_000013.10:g.23913078del , CM000675.1:g.23913078del	GRCh37
NC_000013.9:g.22811078del	NCBI36
NG_012342.1:g.99764del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+14846del	ENSP00000508399.1:n.2185+14846del
ENST00000682944.1:c.4964del	ENSP00000507173.1:p.Leu1655ArgfsTer11
ENST00000683210.1:c.2185+14846del	ENSP00000506739.1:n.2185+14846del
ENST00000683270.1:c.4928del	ENSP00000507624.1:p.Leu1643ArgfsTer11
ENST00000683367.1:c.2177-9455del	ENSP00000507780.1:n.2177-9455del
ENST00000683489.1:c.2291+2646del	ENSP00000508403.1:n.2291+2646del
ENST00000683680.1:c.2318+2646del	ENSP00000507223.1:n.2318+2646del
ENST00000684163.1:c.2203+7872del	ENSP00000508262.1:n.2203+7872del
ENST00000684196.1:n.4543-9455del
ENST00000684325.1:c.2185+14846del	ENSP00000508121.1:n.2185+14846del
ENST00000684385.1:c.2220+7872del	ENSP00000507855.1:n.2220+7872del
ENST00000684497.1:c.2185+14846del	ENSP00000507057.1:n.2185+14846del
ENST00000382292.9:c.4937del MANE Select	ENSP00000371729.3:p.Leu1646ArgfsTer11
ENST00000423156.2:c.2186-9455del	ENSP00000390925.2:n.2186-9455del
ENST00000455470.6:c.2431+2506del	ENSP00000406565.2:n.2431+2506del
ENST00000382292.7:c.4937del	ENSP00000371729.3:p.Leu1646ArgfsTer11
ENST00000382298.7:c.4937del	ENSP00000371735.3:p.Leu1646ArgfsTer11
ENST00000402364.1:c.2687del	ENSP00000385844.1:p.Leu896ArgfsTer11
ENST00000423156.1:c.1058-9455del	ENSP00000390925.1:n.1058-9455del
ENST00000455470.5:c.2129+2506del
NM_001278055.1:c.4496del	NP_001264984.1:p.Leu1499ArgfsTer11
NM_014363.5:c.4937del	NP_055178.3:p.Leu1646ArgfsTer11
XM_005266338.1:c.4964del	XP_005266395.1:p.Leu1655ArgfsTer11
XM_011535038.1:c.4988del	XP_011533340.1:p.Leu1663ArgfsTer11
XM_011535039.1:c.4955del	XP_011533341.1:p.Leu1652ArgfsTer11
XM_005266338.2:c.4964del	XP_005266395.1:p.Leu1655ArgfsTer11
XM_011535039.2:c.4955del	XP_011533341.1:p.Leu1652ArgfsTer11
XM_017020539.1:c.4928del	XP_016876028.1:p.Leu1643ArgfsTer11
XM_024449337.1:c.4964del	XP_024305105.1:p.Leu1655ArgfsTer11
NM_014363.6:c.4937del MANE Select	NP_055178.3:p.Leu1646ArgfsTer11
NM_001278055.2:c.4496del	NP_001264984.1:p.Leu1499ArgfsTer11