Canonical Allele Identifier: CA658823516

Gene: SACS

Linked Data

• ClinVar Variation Id: 555233
• ClinVar RCV Id: RCV000671013 ; RCV001380633
• dbSNP Id: rs1555249371
• MyVariant Identifiers: chr13:g.23330896del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330901del , CM000675.2:g.23330901del	GRCh38
NC_000013.10:g.23905040del , CM000675.1:g.23905040del	GRCh37
NC_000013.9:g.22803040del	NCBI36
NG_012342.1:g.107807del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18781del	ENSP00000508399.1:n.2186-18781del
ENST00000682944.1:c.13007del	ENSP00000507173.1:p.Lys4336ArgfsTer8
ENST00000683210.1:c.2185+22889del	ENSP00000506739.1:n.2185+22889del
ENST00000683270.1:c.6446-1412del	ENSP00000507624.1:n.6446-1412del
ENST00000683367.1:c.2177-1412del	ENSP00000507780.1:n.2177-1412del
ENST00000683489.1:c.2292-944del	ENSP00000508403.1:n.2292-944del
ENST00000683680.1:c.2319-944del	ENSP00000507223.1:n.2319-944del
ENST00000684163.1:c.2204-1412del	ENSP00000508262.1:n.2204-1412del
ENST00000684196.1:n.4543-1412del
ENST00000684325.1:c.2186-9222del	ENSP00000508121.1:n.2186-9222del
ENST00000684385.1:c.2221-1412del	ENSP00000507855.1:n.2221-1412del
ENST00000684497.1:c.2186-8252del	ENSP00000507057.1:n.2186-8252del
ENST00000382292.9:c.12980del MANE Select	ENSP00000371729.3:p.Lys4327ArgfsTer8
ENST00000423156.2:c.2186-1412del	ENSP00000390925.2:n.2186-1412del
ENST00000455470.6:c.2432-1412del	ENSP00000406565.2:n.2432-1412del
ENST00000382292.7:c.12980del	ENSP00000371729.3:p.Lys4327ArgfsTer8
ENST00000382298.7:c.12980del	ENSP00000371735.3:p.Lys4327ArgfsTer8
ENST00000402364.1:c.10730del	ENSP00000385844.1:p.Lys3577ArgfsTer8
ENST00000423156.1:c.1058-1412del	ENSP00000390925.1:n.1058-1412del
ENST00000455470.5:c.2130-1412del
NM_001278055.1:c.12539del	NP_001264984.1:p.Lys4180ArgfsTer8
NM_014363.5:c.12980del	NP_055178.3:p.Lys4327ArgfsTer8
XM_005266338.1:c.13007del	XP_005266395.1:p.Lys4336ArgfsTer8
XM_011535038.1:c.13031del	XP_011533340.1:p.Lys4344ArgfsTer8
XM_011535039.1:c.12998del	XP_011533341.1:p.Lys4333ArgfsTer8
XM_005266338.2:c.13007del	XP_005266395.1:p.Lys4336ArgfsTer8
XM_011535039.2:c.12998del	XP_011533341.1:p.Lys4333ArgfsTer8
XM_017020539.1:c.12971del	XP_016876028.1:p.Lys4324ArgfsTer8
XM_024449337.1:c.13007del	XP_024305105.1:p.Lys4336ArgfsTer8
NM_014363.6:c.12980del MANE Select	NP_055178.3:p.Lys4327ArgfsTer8
NM_001278055.2:c.12539del	NP_001264984.1:p.Lys4180ArgfsTer8