Canonical Allele Identifier: CA645585079

Gene: SACS

Linked Data

• COSMIC: COSM5512965 ; COSM5512966

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23339852del , CM000675.2:g.23339852del	GRCh38
NC_000013.10:g.23913991del , CM000675.1:g.23913991del	GRCh37
NC_000013.9:g.22811991del	NCBI36
NG_012342.1:g.98854del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+13936del	ENSP00000508399.1:n.2185+13936del
ENST00000682944.1:c.4054del	ENSP00000507173.1:p.Ser1352ValfsTer18
ENST00000683210.1:c.2185+13936del	ENSP00000506739.1:n.2185+13936del
ENST00000683270.1:c.4018del	ENSP00000507624.1:p.Ser1340ValfsTer18
ENST00000683367.1:c.2177-10365del	ENSP00000507780.1:n.2177-10365del
ENST00000683489.1:c.2291+1736del	ENSP00000508403.1:n.2291+1736del
ENST00000683680.1:c.2318+1736del	ENSP00000507223.1:n.2318+1736del
ENST00000684163.1:c.2203+6962del	ENSP00000508262.1:n.2203+6962del
ENST00000684196.1:n.4543-10365del
ENST00000684325.1:c.2185+13936del	ENSP00000508121.1:n.2185+13936del
ENST00000684385.1:c.2220+6962del	ENSP00000507855.1:n.2220+6962del
ENST00000684497.1:c.2185+13936del	ENSP00000507057.1:n.2185+13936del
ENST00000382292.9:c.4027del MANE Select	ENSP00000371729.3:p.Ser1343ValfsTer18
ENST00000423156.2:c.2186-10365del	ENSP00000390925.2:n.2186-10365del
ENST00000455470.6:c.2431+1596del	ENSP00000406565.2:n.2431+1596del
ENST00000382292.7:c.4027del	ENSP00000371729.3:p.Ser1343ValfsTer18
ENST00000382298.7:c.4027del	ENSP00000371735.3:p.Ser1343ValfsTer18
ENST00000402364.1:c.1777del	ENSP00000385844.1:p.Ser593ValfsTer18
ENST00000423156.1:c.1058-10365del	ENSP00000390925.1:n.1058-10365del
ENST00000455470.5:c.2129+1596del
NM_001278055.1:c.3586del	NP_001264984.1:p.Ser1196ValfsTer18
NM_014363.5:c.4027del	NP_055178.3:p.Ser1343ValfsTer18
XM_005266338.1:c.4054del	XP_005266395.1:p.Ser1352ValfsTer18
XM_011535038.1:c.4078del	XP_011533340.1:p.Ser1360ValfsTer18
XM_011535039.1:c.4045del	XP_011533341.1:p.Ser1349ValfsTer18
XM_005266338.2:c.4054del	XP_005266395.1:p.Ser1352ValfsTer18
XM_011535039.2:c.4045del	XP_011533341.1:p.Ser1349ValfsTer18
XM_017020539.1:c.4018del	XP_016876028.1:p.Ser1340ValfsTer18
XM_024449337.1:c.4054del	XP_024305105.1:p.Ser1352ValfsTer18
NM_014363.6:c.4027del MANE Select	NP_055178.3:p.Ser1343ValfsTer18
NM_001278055.2:c.3586del	NP_001264984.1:p.Ser1196ValfsTer18