Canonical Allele Identifier: CA1139663030

Gene: SACS

Linked Data

• ClinVar Variation Id: 977927
• ClinVar RCV Id: RCV001255857
• dbSNP Id: rs1868862742

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338385del , CM000675.2:g.23338385del	GRCh38
NC_000013.10:g.23912524del , CM000675.1:g.23912524del	GRCh37
NC_000013.9:g.22810524del	NCBI36
NG_012342.1:g.100319del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15401del	ENSP00000508399.1:n.2185+15401del
ENST00000682944.1:c.5519del	ENSP00000507173.1:p.Lys1840SerfsTer4
ENST00000683210.1:c.2185+15401del	ENSP00000506739.1:n.2185+15401del
ENST00000683270.1:c.5483del	ENSP00000507624.1:p.Lys1828SerfsTer4
ENST00000683367.1:c.2177-8900del	ENSP00000507780.1:n.2177-8900del
ENST00000683489.1:c.2291+3201del	ENSP00000508403.1:n.2291+3201del
ENST00000683680.1:c.2318+3201del	ENSP00000507223.1:n.2318+3201del
ENST00000684163.1:c.2203+8427del	ENSP00000508262.1:n.2203+8427del
ENST00000684196.1:n.4543-8900del
ENST00000684325.1:c.2185+15401del	ENSP00000508121.1:n.2185+15401del
ENST00000684385.1:c.2220+8427del	ENSP00000507855.1:n.2220+8427del
ENST00000684497.1:c.2185+15401del	ENSP00000507057.1:n.2185+15401del
ENST00000382292.9:c.5492del MANE Select	ENSP00000371729.3:p.Lys1831SerfsTer4
ENST00000423156.2:c.2186-8900del	ENSP00000390925.2:n.2186-8900del
ENST00000455470.6:c.2431+3061del	ENSP00000406565.2:n.2431+3061del
ENST00000382292.7:c.5492del	ENSP00000371729.3:p.Lys1831SerfsTer4
ENST00000382298.7:c.5492del	ENSP00000371735.3:p.Lys1831SerfsTer4
ENST00000402364.1:c.3242del	ENSP00000385844.1:p.Lys1081SerfsTer4
ENST00000423156.1:c.1058-8900del	ENSP00000390925.1:n.1058-8900del
ENST00000455470.5:c.2129+3061del
NM_001278055.1:c.5051del	NP_001264984.1:p.Lys1684SerfsTer4
NM_014363.5:c.5492del	NP_055178.3:p.Lys1831SerfsTer4
XM_005266338.1:c.5519del	XP_005266395.1:p.Lys1840SerfsTer4
XM_011535038.1:c.5543del	XP_011533340.1:p.Lys1848SerfsTer4
XM_011535039.1:c.5510del	XP_011533341.1:p.Lys1837SerfsTer4
XM_005266338.2:c.5519del	XP_005266395.1:p.Lys1840SerfsTer4
XM_011535039.2:c.5510del	XP_011533341.1:p.Lys1837SerfsTer4
XM_017020539.1:c.5483del	XP_016876028.1:p.Lys1828SerfsTer4
XM_024449337.1:c.5519del	XP_024305105.1:p.Lys1840SerfsTer4
NM_014363.6:c.5492del MANE Select	NP_055178.3:p.Lys1831SerfsTer4
NM_001278055.2:c.5051del	NP_001264984.1:p.Lys1684SerfsTer4