Canonical Allele Identifier: CA2697551676

Gene: SACS

Linked Data

• ClinVar Variation Id: 2694033
• ClinVar RCV Id: RCV003588973

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23354965dup , CM000675.2:g.23354965dup	GRCh38
NC_000013.10:g.23929104dup , CM000675.1:g.23929104dup	GRCh37
NC_000013.9:g.22827104dup	NCBI36
NG_012342.1:g.83738dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.1647dup	ENSP00000508399.1:p.Glu550ArgfsTer17
ENST00000682944.1:c.1647dup	ENSP00000507173.1:p.Glu550ArgfsTer17
ENST00000683154.1:n.1785dup
ENST00000683210.1:c.1647dup	ENSP00000506739.1:p.Glu550ArgfsTer17
ENST00000683270.1:c.1638dup	ENSP00000507624.1:p.Glu547ArgfsTer17
ENST00000683367.1:c.1638dup	ENSP00000507780.1:p.Glu547ArgfsTer17
ENST00000683489.1:c.1647dup	ENSP00000508403.1:p.Glu550ArgfsTer17
ENST00000683680.1:c.1647dup	ENSP00000507223.1:p.Glu550ArgfsTer17
ENST00000684163.1:c.1638dup	ENSP00000508262.1:p.Glu547ArgfsTer17
ENST00000684196.1:n.4004dup
ENST00000684325.1:c.1647dup	ENSP00000508121.1:p.Glu550ArgfsTer17
ENST00000684385.1:c.1647dup	ENSP00000507855.1:p.Glu550ArgfsTer17
ENST00000684497.1:c.1647dup	ENSP00000507057.1:p.Glu550ArgfsTer17
ENST00000382292.9:c.1647dup MANE Select	ENSP00000371729.3:p.Glu550ArgfsTer17
ENST00000423156.2:c.1647dup	ENSP00000390925.2:p.Glu550ArgfsTer17
ENST00000455470.6:c.1647dup	ENSP00000406565.2:p.Glu550ArgfsTer17
ENST00000382292.7:c.1647dup	ENSP00000371729.3:p.Glu550ArgfsTer17
ENST00000382298.7:c.1647dup	ENSP00000371735.3:p.Glu550ArgfsTer17
ENST00000402364.1:c.-604dup	ENSP00000385844.1:n.-604dup
ENST00000423156.1:c.519dup	ENSP00000390925.1:p.Glu174ArgfsTer17
ENST00000455470.5:c.1345dup
NM_001278055.1:c.1206dup	NP_001264984.1:p.Glu403ArgfsTer17
NM_014363.5:c.1647dup	NP_055178.3:p.Glu550ArgfsTer17
XM_005266338.1:c.1647dup	XP_005266395.1:p.Glu550ArgfsTer17
XM_011535038.1:c.1671dup	XP_011533340.1:p.Glu558ArgfsTer17
XM_011535039.1:c.1638dup	XP_011533341.1:p.Glu547ArgfsTer17
XM_005266338.2:c.1647dup	XP_005266395.1:p.Glu550ArgfsTer17
XM_011535039.2:c.1638dup	XP_011533341.1:p.Glu547ArgfsTer17
XM_017020539.1:c.1638dup	XP_016876028.1:p.Glu547ArgfsTer17
XM_024449337.1:c.1647dup	XP_024305105.1:p.Glu550ArgfsTer17
NM_014363.6:c.1647dup MANE Select	NP_055178.3:p.Glu550ArgfsTer17
NM_001278055.2:c.1206dup	NP_001264984.1:p.Glu403ArgfsTer17