Canonical Allele Identifier: CA2697551674

Gene: SACS

Linked Data

• ClinVar Variation Id: 2709268
• ClinVar RCV Id: RCV003589937

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338496del , CM000675.2:g.23338496del	GRCh38
NC_000013.10:g.23912635del , CM000675.1:g.23912635del	GRCh37
NC_000013.9:g.22810635del	NCBI36
NG_012342.1:g.100207del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15289del	ENSP00000508399.1:n.2185+15289del
ENST00000682944.1:c.5407del	ENSP00000507173.1:p.Glu1803LysfsTer20
ENST00000683210.1:c.2185+15289del	ENSP00000506739.1:n.2185+15289del
ENST00000683270.1:c.5371del	ENSP00000507624.1:p.Glu1791LysfsTer20
ENST00000683367.1:c.2177-9012del	ENSP00000507780.1:n.2177-9012del
ENST00000683489.1:c.2291+3089del	ENSP00000508403.1:n.2291+3089del
ENST00000683680.1:c.2318+3089del	ENSP00000507223.1:n.2318+3089del
ENST00000684163.1:c.2203+8315del	ENSP00000508262.1:n.2203+8315del
ENST00000684196.1:n.4543-9012del
ENST00000684325.1:c.2185+15289del	ENSP00000508121.1:n.2185+15289del
ENST00000684385.1:c.2220+8315del	ENSP00000507855.1:n.2220+8315del
ENST00000684497.1:c.2185+15289del	ENSP00000507057.1:n.2185+15289del
ENST00000382292.9:c.5380del MANE Select	ENSP00000371729.3:p.Glu1794LysfsTer20
ENST00000423156.2:c.2186-9012del	ENSP00000390925.2:n.2186-9012del
ENST00000455470.6:c.2431+2949del	ENSP00000406565.2:n.2431+2949del
ENST00000382292.7:c.5380del	ENSP00000371729.3:p.Glu1794LysfsTer20
ENST00000382298.7:c.5380del	ENSP00000371735.3:p.Glu1794LysfsTer20
ENST00000402364.1:c.3130del	ENSP00000385844.1:p.Glu1044LysfsTer20
ENST00000423156.1:c.1058-9012del	ENSP00000390925.1:n.1058-9012del
ENST00000455470.5:c.2129+2949del
NM_001278055.1:c.4939del	NP_001264984.1:p.Glu1647LysfsTer20
NM_014363.5:c.5380del	NP_055178.3:p.Glu1794LysfsTer20
XM_005266338.1:c.5407del	XP_005266395.1:p.Glu1803LysfsTer20
XM_011535038.1:c.5431del	XP_011533340.1:p.Glu1811LysfsTer20
XM_011535039.1:c.5398del	XP_011533341.1:p.Glu1800LysfsTer20
XM_005266338.2:c.5407del	XP_005266395.1:p.Glu1803LysfsTer20
XM_011535039.2:c.5398del	XP_011533341.1:p.Glu1800LysfsTer20
XM_017020539.1:c.5371del	XP_016876028.1:p.Glu1791LysfsTer20
XM_024449337.1:c.5407del	XP_024305105.1:p.Glu1803LysfsTer20
NM_014363.6:c.5380del MANE Select	NP_055178.3:p.Glu1794LysfsTer20
NM_001278055.2:c.4939del	NP_001264984.1:p.Glu1647LysfsTer20