Canonical Allele Identifier: CA608985253

Gene: SACS

Linked Data

• dbSNP Id: rs1478678763
• gnomAD v2: 13-23910856-CA-C
• COSMIC: COSM4723411 ; COSM4723412
• MyVariant Identifiers: chr13:g.23910857del (hg19) ; chr13:g.23336718del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336722del , CM000675.2:g.23336722del	GRCh38
NC_000013.10:g.23910861del , CM000675.1:g.23910861del	GRCh37
NC_000013.9:g.22808861del	NCBI36
NG_012342.1:g.101985del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+17067del	ENSP00000508399.1:n.2185+17067del
ENST00000682944.1:c.7185del	ENSP00000507173.1:p.Phe2395LeufsTer6
ENST00000683210.1:c.2185+17067del	ENSP00000506739.1:n.2185+17067del
ENST00000683270.1:c.6445+704del	ENSP00000507624.1:n.6445+704del
ENST00000683367.1:c.2177-7234del	ENSP00000507780.1:n.2177-7234del
ENST00000683489.1:c.2291+4867del	ENSP00000508403.1:n.2291+4867del
ENST00000683680.1:c.2318+4867del	ENSP00000507223.1:n.2318+4867del
ENST00000684163.1:c.2204-7234del	ENSP00000508262.1:n.2204-7234del
ENST00000684196.1:n.4543-7234del
ENST00000684325.1:c.2186-15044del	ENSP00000508121.1:n.2186-15044del
ENST00000684385.1:c.2221-7234del	ENSP00000507855.1:n.2221-7234del
ENST00000684497.1:c.2186-14074del	ENSP00000507057.1:n.2186-14074del
ENST00000382292.9:c.7158del MANE Select	ENSP00000371729.3:p.Phe2386LeufsTer6
ENST00000423156.2:c.2186-7234del	ENSP00000390925.2:n.2186-7234del
ENST00000455470.6:c.2431+4727del	ENSP00000406565.2:n.2431+4727del
ENST00000382292.7:c.7158del	ENSP00000371729.3:p.Phe2386LeufsTer6
ENST00000382298.7:c.7158del	ENSP00000371735.3:p.Phe2386LeufsTer6
ENST00000402364.1:c.4908del	ENSP00000385844.1:p.Phe1636LeufsTer6
ENST00000423156.1:c.1058-7234del	ENSP00000390925.1:n.1058-7234del
ENST00000455470.5:c.2129+4727del
NM_001278055.1:c.6717del	NP_001264984.1:p.Phe2239LeufsTer6
NM_014363.5:c.7158del	NP_055178.3:p.Phe2386LeufsTer6
XM_005266338.1:c.7185del	XP_005266395.1:p.Phe2395LeufsTer6
XM_011535038.1:c.7209del	XP_011533340.1:p.Phe2403LeufsTer6
XM_011535039.1:c.7176del	XP_011533341.1:p.Phe2392LeufsTer6
XM_005266338.2:c.7185del	XP_005266395.1:p.Phe2395LeufsTer6
XM_011535039.2:c.7176del	XP_011533341.1:p.Phe2392LeufsTer6
XM_017020539.1:c.7149del	XP_016876028.1:p.Phe2383LeufsTer6
XM_024449337.1:c.7185del	XP_024305105.1:p.Phe2395LeufsTer6
NM_014363.6:c.7158del MANE Select	NP_055178.3:p.Phe2386LeufsTer6
NM_001278055.2:c.6717del	NP_001264984.1:p.Phe2239LeufsTer6