Canonical Allele Identifier: CA2580086858

Gene: SACS

Linked Data

• ClinVar Variation Id: 2102267
• ClinVar RCV Id: RCV003037641

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23355080_23355081insA , CM000675.2:g.23355080_23355081insA	GRCh38
NC_000013.10:g.23929219_23929220insA , CM000675.1:g.23929219_23929220insA	GRCh37
NC_000013.9:g.22827219_22827220insA	NCBI36
NG_012342.1:g.83622_83623insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.1531_1532insT	ENSP00000508399.1:p.Asp511ValfsTer13
ENST00000682944.1:c.1531_1532insT	ENSP00000507173.1:p.Asp511ValfsTer13
ENST00000683154.1:n.1669_1670insT
ENST00000683210.1:c.1531_1532insT	ENSP00000506739.1:p.Asp511ValfsTer13
ENST00000683270.1:c.1522_1523insT	ENSP00000507624.1:p.Asp508ValfsTer13
ENST00000683367.1:c.1522_1523insT	ENSP00000507780.1:p.Asp508ValfsTer13
ENST00000683489.1:c.1531_1532insT	ENSP00000508403.1:p.Asp511ValfsTer13
ENST00000683680.1:c.1531_1532insT	ENSP00000507223.1:p.Asp511ValfsTer13
ENST00000684163.1:c.1522_1523insT	ENSP00000508262.1:p.Asp508ValfsTer13
ENST00000684196.1:n.3888_3889insT
ENST00000684325.1:c.1531_1532insT	ENSP00000508121.1:p.Asp511ValfsTer13
ENST00000684385.1:c.1531_1532insT	ENSP00000507855.1:p.Asp511ValfsTer13
ENST00000684497.1:c.1531_1532insT	ENSP00000507057.1:p.Asp511ValfsTer13
ENST00000382292.9:c.1531_1532insT MANE Select	ENSP00000371729.3:p.Asp511ValfsTer13
ENST00000423156.2:c.1531_1532insT	ENSP00000390925.2:p.Asp511ValfsTer13
ENST00000455470.6:c.1531_1532insT	ENSP00000406565.2:p.Asp511ValfsTer13
ENST00000382292.7:c.1531_1532insT	ENSP00000371729.3:p.Asp511ValfsTer13
ENST00000382298.7:c.1531_1532insT	ENSP00000371735.3:p.Asp511ValfsTer13
ENST00000402364.1:c.-720_-719insT	ENSP00000385844.1:n.-720_-719insT
ENST00000423156.1:c.403_404insT	ENSP00000390925.1:p.Asp135ValfsTer13
ENST00000455470.5:c.1229_1230insT
NM_001278055.1:c.1090_1091insT	NP_001264984.1:p.Asp364ValfsTer13
NM_014363.5:c.1531_1532insT	NP_055178.3:p.Asp511ValfsTer13
XM_005266338.1:c.1531_1532insT	XP_005266395.1:p.Asp511ValfsTer13
XM_011535038.1:c.1555_1556insT	XP_011533340.1:p.Asp519ValfsTer13
XM_011535039.1:c.1522_1523insT	XP_011533341.1:p.Asp508ValfsTer13
XM_005266338.2:c.1531_1532insT	XP_005266395.1:p.Asp511ValfsTer13
XM_011535039.2:c.1522_1523insT	XP_011533341.1:p.Asp508ValfsTer13
XM_017020539.1:c.1522_1523insT	XP_016876028.1:p.Asp508ValfsTer13
XM_024449337.1:c.1531_1532insT	XP_024305105.1:p.Asp511ValfsTer13
NM_014363.6:c.1531_1532insT MANE Select	NP_055178.3:p.Asp511ValfsTer13
NM_001278055.2:c.1090_1091insT	NP_001264984.1:p.Asp364ValfsTer13