Canonical Allele Identifier: CA2573149117

Gene: SACS

Linked Data

• ClinVar Variation Id: 5515
• ClinVar RCV Id: RCV000005850
• dbSNP Id: rs2137634136

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340292del , CM000675.2:g.23340292del	GRCh38
NC_000013.10:g.23914431del , CM000675.1:g.23914431del	GRCh37
NC_000013.9:g.22812431del	NCBI36
NG_012342.1:g.98412del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+13494del	ENSP00000508399.1:n.2185+13494del
ENST00000682944.1:c.3612del	ENSP00000507173.1:p.Ile1204MetfsTer13
ENST00000683210.1:c.2185+13494del	ENSP00000506739.1:n.2185+13494del
ENST00000683270.1:c.3576del	ENSP00000507624.1:p.Ile1192MetfsTer13
ENST00000683367.1:c.2177-10807del	ENSP00000507780.1:n.2177-10807del
ENST00000683489.1:c.2291+1294del	ENSP00000508403.1:n.2291+1294del
ENST00000683680.1:c.2318+1294del	ENSP00000507223.1:n.2318+1294del
ENST00000684163.1:c.2203+6520del	ENSP00000508262.1:n.2203+6520del
ENST00000684196.1:n.4543-10807del
ENST00000684325.1:c.2185+13494del	ENSP00000508121.1:n.2185+13494del
ENST00000684385.1:c.2220+6520del	ENSP00000507855.1:n.2220+6520del
ENST00000684497.1:c.2185+13494del	ENSP00000507057.1:n.2185+13494del
ENST00000382292.9:c.3585del MANE Select	ENSP00000371729.3:p.Ile1195MetfsTer13
ENST00000423156.2:c.2186-10807del	ENSP00000390925.2:n.2186-10807del
ENST00000455470.6:c.2431+1154del	ENSP00000406565.2:n.2431+1154del
ENST00000382292.7:c.3585del	ENSP00000371729.3:p.Ile1195MetfsTer13
ENST00000382298.7:c.3585del	ENSP00000371735.3:p.Ile1195MetfsTer13
ENST00000402364.1:c.1335del	ENSP00000385844.1:p.Ile445MetfsTer13
ENST00000423156.1:c.1058-10807del	ENSP00000390925.1:n.1058-10807del
ENST00000455470.5:c.2129+1154del
NM_001278055.1:c.3144del	NP_001264984.1:p.Ile1048MetfsTer13
NM_014363.5:c.3585del	NP_055178.3:p.Ile1195MetfsTer13
XM_005266338.1:c.3612del	XP_005266395.1:p.Ile1204MetfsTer13
XM_011535038.1:c.3636del	XP_011533340.1:p.Ile1212MetfsTer13
XM_011535039.1:c.3603del	XP_011533341.1:p.Ile1201MetfsTer13
XM_005266338.2:c.3612del	XP_005266395.1:p.Ile1204MetfsTer13
XM_011535039.2:c.3603del	XP_011533341.1:p.Ile1201MetfsTer13
XM_017020539.1:c.3576del	XP_016876028.1:p.Ile1192MetfsTer13
XM_024449337.1:c.3612del	XP_024305105.1:p.Ile1204MetfsTer13
NM_014363.6:c.3585del MANE Select	NP_055178.3:p.Ile1195MetfsTer13
NM_001278055.2:c.3144del	NP_001264984.1:p.Ile1048MetfsTer13