Canonical Allele Identifier: CA2580614622

Gene: SACS

Linked Data

• ClinVar Variation Id: 2572587
• ClinVar RCV Id: RCV003314472

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336242del , CM000675.2:g.23336242del	GRCh38
NC_000013.10:g.23910381del , CM000675.1:g.23910381del	GRCh37
NC_000013.9:g.22808381del	NCBI36
NG_012342.1:g.102461del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17543del	ENSP00000508399.1:n.2185+17543del
ENST00000682944.1:c.7661del	ENSP00000507173.1:p.Met2554SerfsTer2
ENST00000683210.1:c.2185+17543del	ENSP00000506739.1:n.2185+17543del
ENST00000683270.1:c.6445+1180del	ENSP00000507624.1:n.6445+1180del
ENST00000683367.1:c.2177-6758del	ENSP00000507780.1:n.2177-6758del
ENST00000683489.1:c.2291+5343del	ENSP00000508403.1:n.2291+5343del
ENST00000683680.1:c.2318+5343del	ENSP00000507223.1:n.2318+5343del
ENST00000684163.1:c.2204-6758del	ENSP00000508262.1:n.2204-6758del
ENST00000684196.1:n.4543-6758del
ENST00000684325.1:c.2186-14568del	ENSP00000508121.1:n.2186-14568del
ENST00000684385.1:c.2221-6758del	ENSP00000507855.1:n.2221-6758del
ENST00000684497.1:c.2186-13598del	ENSP00000507057.1:n.2186-13598del
ENST00000382292.9:c.7634del MANE Select	ENSP00000371729.3:p.Met2545SerfsTer2
ENST00000423156.2:c.2186-6758del	ENSP00000390925.2:n.2186-6758del
ENST00000455470.6:c.2431+5203del	ENSP00000406565.2:n.2431+5203del
ENST00000382292.7:c.7634del	ENSP00000371729.3:p.Met2545SerfsTer2
ENST00000382298.7:c.7634del	ENSP00000371735.3:p.Met2545SerfsTer2
ENST00000402364.1:c.5384del	ENSP00000385844.1:p.Met1795SerfsTer2
ENST00000423156.1:c.1058-6758del	ENSP00000390925.1:n.1058-6758del
ENST00000455470.5:c.2129+5203del
NM_001278055.1:c.7193del	NP_001264984.1:p.Met2398SerfsTer2
NM_014363.5:c.7634del	NP_055178.3:p.Met2545SerfsTer2
XM_005266338.1:c.7661del	XP_005266395.1:p.Met2554SerfsTer2
XM_011535038.1:c.7685del	XP_011533340.1:p.Met2562SerfsTer2
XM_011535039.1:c.7652del	XP_011533341.1:p.Met2551SerfsTer2
XM_005266338.2:c.7661del	XP_005266395.1:p.Met2554SerfsTer2
XM_011535039.2:c.7652del	XP_011533341.1:p.Met2551SerfsTer2
XM_017020539.1:c.7625del	XP_016876028.1:p.Met2542SerfsTer2
XM_024449337.1:c.7661del	XP_024305105.1:p.Met2554SerfsTer2
NM_014363.6:c.7634del MANE Select	NP_055178.3:p.Met2545SerfsTer2
NM_001278055.2:c.7193del	NP_001264984.1:p.Met2398SerfsTer2