Canonical Allele Identifier: CA658823503

Gene: SACS

Linked Data

• ClinVar Variation Id: 555665
• ClinVar RCV Id: RCV000671528
• dbSNP Id: rs1555251301
• MyVariant Identifiers: chr13:g.23336008del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336009del , CM000675.2:g.23336009del	GRCh38
NC_000013.10:g.23910148del , CM000675.1:g.23910148del	GRCh37
NC_000013.9:g.22808148del	NCBI36
NG_012342.1:g.102695del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+17777del	ENSP00000508399.1:n.2185+17777del
ENST00000682944.1:c.7895del	ENSP00000507173.1:p.Gly2632GlufsTer2
ENST00000683210.1:c.2185+17777del	ENSP00000506739.1:n.2185+17777del
ENST00000683270.1:c.6445+1414del	ENSP00000507624.1:n.6445+1414del
ENST00000683367.1:c.2177-6524del	ENSP00000507780.1:n.2177-6524del
ENST00000683489.1:c.2291+5577del	ENSP00000508403.1:n.2291+5577del
ENST00000683680.1:c.2318+5577del	ENSP00000507223.1:n.2318+5577del
ENST00000684163.1:c.2204-6524del	ENSP00000508262.1:n.2204-6524del
ENST00000684196.1:n.4543-6524del
ENST00000684325.1:c.2186-14334del	ENSP00000508121.1:n.2186-14334del
ENST00000684385.1:c.2221-6524del	ENSP00000507855.1:n.2221-6524del
ENST00000684497.1:c.2186-13364del	ENSP00000507057.1:n.2186-13364del
ENST00000382292.9:c.7868del MANE Select	ENSP00000371729.3:p.Gly2623GlufsTer2
ENST00000423156.2:c.2186-6524del	ENSP00000390925.2:n.2186-6524del
ENST00000455470.6:c.2431+5437del	ENSP00000406565.2:n.2431+5437del
ENST00000382292.7:c.7868del	ENSP00000371729.3:p.Gly2623GlufsTer2
ENST00000382298.7:c.7868del	ENSP00000371735.3:p.Gly2623GlufsTer2
ENST00000402364.1:c.5618del	ENSP00000385844.1:p.Gly1873GlufsTer2
ENST00000423156.1:c.1058-6524del	ENSP00000390925.1:n.1058-6524del
ENST00000455470.5:c.2129+5437del
NM_001278055.1:c.7427del	NP_001264984.1:p.Gly2476GlufsTer2
NM_014363.5:c.7868del	NP_055178.3:p.Gly2623GlufsTer2
XM_005266338.1:c.7895del	XP_005266395.1:p.Gly2632GlufsTer2
XM_011535038.1:c.7919del	XP_011533340.1:p.Gly2640GlufsTer2
XM_011535039.1:c.7886del	XP_011533341.1:p.Gly2629GlufsTer2
XM_005266338.2:c.7895del	XP_005266395.1:p.Gly2632GlufsTer2
XM_011535039.2:c.7886del	XP_011533341.1:p.Gly2629GlufsTer2
XM_017020539.1:c.7859del	XP_016876028.1:p.Gly2620GlufsTer2
XM_024449337.1:c.7895del	XP_024305105.1:p.Gly2632GlufsTer2
NM_014363.6:c.7868del MANE Select	NP_055178.3:p.Gly2623GlufsTer2
NM_001278055.2:c.7427del	NP_001264984.1:p.Gly2476GlufsTer2