Canonical Allele Identifier: CA2580086879

Gene: SACS

Linked Data

• ClinVar Variation Id: 1726358
• ClinVar RCV Id: RCV002307329

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23358375_23358376del , CM000675.2:g.23358375_23358376del	GRCh38
NC_000013.10:g.23932514_23932515del , CM000675.1:g.23932514_23932515del	GRCh37
NC_000013.9:g.22830514_22830515del	NCBI36
NG_012342.1:g.80327_80328del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.563_564del	ENSP00000508399.1:p.Gly188GlufsTer7
ENST00000682944.1:c.563_564del	ENSP00000507173.1:p.Gly188GlufsTer7
ENST00000683154.1:n.701_702del
ENST00000683210.1:c.563_564del	ENSP00000506739.1:p.Gly188GlufsTer7
ENST00000683270.1:c.554_555del	ENSP00000507624.1:p.Gly185GlufsTer7
ENST00000683367.1:c.554_555del	ENSP00000507780.1:p.Gly185GlufsTer7
ENST00000683489.1:c.563_564del	ENSP00000508403.1:p.Gly188GlufsTer7
ENST00000683680.1:c.563_564del	ENSP00000507223.1:p.Gly188GlufsTer7
ENST00000684163.1:c.554_555del	ENSP00000508262.1:p.Gly185GlufsTer7
ENST00000684196.1:n.2920_2921del
ENST00000684325.1:c.563_564del	ENSP00000508121.1:p.Gly188GlufsTer7
ENST00000684385.1:c.563_564del	ENSP00000507855.1:p.Gly188GlufsTer7
ENST00000684497.1:c.563_564del	ENSP00000507057.1:p.Gly188GlufsTer7
ENST00000382292.9:c.563_564del MANE Select	ENSP00000371729.3:p.Gly188GlufsTer7
ENST00000423156.2:c.563_564del	ENSP00000390925.2:p.Gly188GlufsTer7
ENST00000455470.6:c.563_564del	ENSP00000406565.2:p.Gly188GlufsTer7
ENST00000382292.7:c.563_564del	ENSP00000371729.3:p.Gly188GlufsTer7
ENST00000382298.7:c.563_564del	ENSP00000371735.3:p.Gly188GlufsTer7
ENST00000402364.1:c.-1688_-1687del	ENSP00000385844.1:n.-1688_-1687del
ENST00000455470.5:c.261_262del
NM_001278055.1:c.122_123del	NP_001264984.1:p.Gly41GlufsTer7
NM_014363.5:c.563_564del	NP_055178.3:p.Gly188GlufsTer7
XM_005266338.1:c.563_564del	XP_005266395.1:p.Gly188GlufsTer7
XM_011535038.1:c.587_588del	XP_011533340.1:p.Gly196GlufsTer7
XM_011535039.1:c.554_555del	XP_011533341.1:p.Gly185GlufsTer7
XM_005266338.2:c.563_564del	XP_005266395.1:p.Gly188GlufsTer7
XM_011535039.2:c.554_555del	XP_011533341.1:p.Gly185GlufsTer7
XM_017020539.1:c.554_555del	XP_016876028.1:p.Gly185GlufsTer7
XM_024449337.1:c.563_564del	XP_024305105.1:p.Gly188GlufsTer7
NM_014363.6:c.563_564del MANE Select	NP_055178.3:p.Gly188GlufsTer7
NM_001278055.2:c.122_123del	NP_001264984.1:p.Gly41GlufsTer7