Canonical Allele Identifier: CA2573149127

Gene: SACS

Linked Data

• ClinVar Variation Id: 1453705
• ClinVar RCV Id: RCV002002551
• dbSNP Id: rs2137719772

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23354906_23354907del , CM000675.2:g.23354906_23354907del	GRCh38
NC_000013.10:g.23929045_23929046del , CM000675.1:g.23929045_23929046del	GRCh37
NC_000013.9:g.22827045_22827046del	NCBI36
NG_012342.1:g.83796_83797del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.1705_1706del	ENSP00000508399.1:p.Trp569GlyfsTer12
ENST00000682944.1:c.1705_1706del	ENSP00000507173.1:p.Trp569GlyfsTer12
ENST00000683154.1:n.1843_1844del
ENST00000683210.1:c.1705_1706del	ENSP00000506739.1:p.Trp569GlyfsTer12
ENST00000683270.1:c.1696_1697del	ENSP00000507624.1:p.Trp566GlyfsTer12
ENST00000683367.1:c.1696_1697del	ENSP00000507780.1:p.Trp566GlyfsTer12
ENST00000683489.1:c.1705_1706del	ENSP00000508403.1:p.Trp569GlyfsTer12
ENST00000683680.1:c.1705_1706del	ENSP00000507223.1:p.Trp569GlyfsTer12
ENST00000684163.1:c.1696_1697del	ENSP00000508262.1:p.Trp566GlyfsTer12
ENST00000684196.1:n.4062_4063del
ENST00000684325.1:c.1705_1706del	ENSP00000508121.1:p.Trp569GlyfsTer12
ENST00000684385.1:c.1705_1706del	ENSP00000507855.1:p.Trp569GlyfsTer12
ENST00000684497.1:c.1705_1706del	ENSP00000507057.1:p.Trp569GlyfsTer12
ENST00000382292.9:c.1705_1706del MANE Select	ENSP00000371729.3:p.Trp569GlyfsTer12
ENST00000423156.2:c.1705_1706del	ENSP00000390925.2:p.Trp569GlyfsTer12
ENST00000455470.6:c.1705_1706del	ENSP00000406565.2:p.Trp569GlyfsTer12
ENST00000382292.7:c.1705_1706del	ENSP00000371729.3:p.Trp569GlyfsTer12
ENST00000382298.7:c.1705_1706del	ENSP00000371735.3:p.Trp569GlyfsTer12
ENST00000402364.1:c.-546_-545del	ENSP00000385844.1:n.-546_-545del
ENST00000423156.1:c.577_578del	ENSP00000390925.1:p.Trp193GlyfsTer12
ENST00000455470.5:c.1403_1404del
NM_001278055.1:c.1264_1265del	NP_001264984.1:p.Trp422GlyfsTer12
NM_014363.5:c.1705_1706del	NP_055178.3:p.Trp569GlyfsTer12
XM_005266338.1:c.1705_1706del	XP_005266395.1:p.Trp569GlyfsTer12
XM_011535038.1:c.1729_1730del	XP_011533340.1:p.Trp577GlyfsTer12
XM_011535039.1:c.1696_1697del	XP_011533341.1:p.Trp566GlyfsTer12
XM_005266338.2:c.1705_1706del	XP_005266395.1:p.Trp569GlyfsTer12
XM_011535039.2:c.1696_1697del	XP_011533341.1:p.Trp566GlyfsTer12
XM_017020539.1:c.1696_1697del	XP_016876028.1:p.Trp566GlyfsTer12
XM_024449337.1:c.1705_1706del	XP_024305105.1:p.Trp569GlyfsTer12
NM_014363.6:c.1705_1706del MANE Select	NP_055178.3:p.Trp569GlyfsTer12
NM_001278055.2:c.1264_1265del	NP_001264984.1:p.Trp422GlyfsTer12