Canonical Allele Identifier: CA246658161

Gene: SACS

Linked Data

• dbSNP Id: rs34995910
• MyVariant Identifiers: chr13:g.23911666_23911667insG (hg19) ; chr13:g.23337527_23337528insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337531dup , CM000675.2:g.23337531dup	GRCh38
NC_000013.10:g.23911670dup , CM000675.1:g.23911670dup	GRCh37
NC_000013.9:g.22809670dup	NCBI36
NG_012342.1:g.101175dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16257dup	ENSP00000508399.1:n.2185+16257dup
ENST00000682944.1:c.6375dup	ENSP00000507173.1:p.Glu2126ArgfsTer9
ENST00000683210.1:c.2185+16257dup	ENSP00000506739.1:n.2185+16257dup
ENST00000683270.1:c.6339dup	ENSP00000507624.1:p.Glu2114ArgfsTer9
ENST00000683367.1:c.2177-8044dup	ENSP00000507780.1:n.2177-8044dup
ENST00000683489.1:c.2291+4057dup	ENSP00000508403.1:n.2291+4057dup
ENST00000683680.1:c.2318+4057dup	ENSP00000507223.1:n.2318+4057dup
ENST00000684163.1:c.2204-8044dup	ENSP00000508262.1:n.2204-8044dup
ENST00000684196.1:n.4543-8044dup
ENST00000684325.1:c.2186-15854dup	ENSP00000508121.1:n.2186-15854dup
ENST00000684385.1:c.2221-8044dup	ENSP00000507855.1:n.2221-8044dup
ENST00000684497.1:c.2186-14884dup	ENSP00000507057.1:n.2186-14884dup
ENST00000382292.9:c.6348dup MANE Select	ENSP00000371729.3:p.Glu2117ArgfsTer9
ENST00000423156.2:c.2186-8044dup	ENSP00000390925.2:n.2186-8044dup
ENST00000455470.6:c.2431+3917dup	ENSP00000406565.2:n.2431+3917dup
ENST00000382292.7:c.6348dup	ENSP00000371729.3:p.Glu2117ArgfsTer9
ENST00000382298.7:c.6348dup	ENSP00000371735.3:p.Glu2117ArgfsTer9
ENST00000402364.1:c.4098dup	ENSP00000385844.1:p.Glu1367ArgfsTer9
ENST00000423156.1:c.1058-8044dup	ENSP00000390925.1:n.1058-8044dup
ENST00000455470.5:c.2129+3917dup
NM_001278055.1:c.5907dup	NP_001264984.1:p.Glu1970ArgfsTer9
NM_014363.5:c.6348dup	NP_055178.3:p.Glu2117ArgfsTer9
XM_005266338.1:c.6375dup	XP_005266395.1:p.Glu2126ArgfsTer9
XM_011535038.1:c.6399dup	XP_011533340.1:p.Glu2134ArgfsTer9
XM_011535039.1:c.6366dup	XP_011533341.1:p.Glu2123ArgfsTer9
XM_005266338.2:c.6375dup	XP_005266395.1:p.Glu2126ArgfsTer9
XM_011535039.2:c.6366dup	XP_011533341.1:p.Glu2123ArgfsTer9
XM_017020539.1:c.6339dup	XP_016876028.1:p.Glu2114ArgfsTer9
XM_024449337.1:c.6375dup	XP_024305105.1:p.Glu2126ArgfsTer9
NM_014363.6:c.6348dup MANE Select	NP_055178.3:p.Glu2117ArgfsTer9
NM_001278055.2:c.5907dup	NP_001264984.1:p.Glu1970ArgfsTer9