Canonical Allele Identifier: CA658823523
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 551523
dbSNP Id: rs1555251699
MyVariant Identifiers: chr13:g.23337213del (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23337216del , CM000675.2:g.23337216del GRCh38
NC_000013.10:g.23911355del , CM000675.1:g.23911355del GRCh37
NC_000013.9:g.22809355del NCBI36
NG_012342.1:g.101490del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+16572del ENSP00000508399.1:n.2185+16572del
ENST00000682944.1:c.6690del ENSP00000507173.1:p.Lys2230AsnfsTer?
ENST00000683210.1:c.2185+16572del ENSP00000506739.1:n.2185+16572del
ENST00000683270.1:c.6445+209del ENSP00000507624.1:n.6445+209del
ENST00000683367.1:c.2177-7729del ENSP00000507780.1:n.2177-7729del
ENST00000683489.1:c.2291+4372del ENSP00000508403.1:n.2291+4372del
ENST00000683680.1:c.2318+4372del ENSP00000507223.1:n.2318+4372del
ENST00000684163.1:c.2204-7729del ENSP00000508262.1:n.2204-7729del
ENST00000684196.1:n.4543-7729del
ENST00000684325.1:c.2186-15539del ENSP00000508121.1:n.2186-15539del
ENST00000684385.1:c.2221-7729del ENSP00000507855.1:n.2221-7729del
ENST00000684497.1:c.2186-14569del ENSP00000507057.1:n.2186-14569del
ENST00000382292.9:c.6663del MANE Select ENSP00000371729.3:p.Lys2221AsnfsTer?
ENST00000423156.2:c.2186-7729del ENSP00000390925.2:n.2186-7729del
ENST00000455470.6:c.2431+4232del ENSP00000406565.2:n.2431+4232del
ENST00000382292.7:c.6663del ENSP00000371729.3:p.Lys2221AsnfsTer?
ENST00000382298.7:c.6663del ENSP00000371735.3:p.Lys2221AsnfsTer?
ENST00000402364.1:c.4413del ENSP00000385844.1:p.Lys1471AsnfsTer?
ENST00000423156.1:c.1058-7729del ENSP00000390925.1:n.1058-7729del
ENST00000455470.5:c.2129+4232del
NM_001278055.1:c.6222del NP_001264984.1:p.Lys2074AsnfsTer?
NM_014363.5:c.6663del NP_055178.3:p.Lys2221AsnfsTer?
XM_005266338.1:c.6690del XP_005266395.1:p.Lys2230AsnfsTer?
XM_011535038.1:c.6714del XP_011533340.1:p.Lys2238AsnfsTer?
XM_011535039.1:c.6681del XP_011533341.1:p.Lys2227AsnfsTer?
XM_005266338.2:c.6690del XP_005266395.1:p.Lys2230AsnfsTer?
XM_011535039.2:c.6681del XP_011533341.1:p.Lys2227AsnfsTer?
XM_017020539.1:c.6654del XP_016876028.1:p.Lys2218AsnfsTer?
XM_024449337.1:c.6690del XP_024305105.1:p.Lys2230AsnfsTer?
NM_014363.6:c.6663del MANE Select NP_055178.3:p.Lys2221AsnfsTer?
NM_001278055.2:c.6222del NP_001264984.1:p.Lys2074AsnfsTer?