Canonical Allele Identifier: CA16041637
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 370181
ClinVar RCV Id: RCV000409192
dbSNP Id: rs1057516294

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23339406_23339412del , CM000675.2:g.23339406_23339412del GRCh38
NC_000013.10:g.23913545_23913551del , CM000675.1:g.23913545_23913551del GRCh37
NC_000013.9:g.22811545_22811551del NCBI36
NG_012342.1:g.99292_99298del

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+14374_2185+14380del ENSP00000508399.1:n.2185+14374_2185+14380...
ENST00000682944.1:c.4492_4498del ENSP00000507173.1:p.Asn1498GlnfsTer6
ENST00000683210.1:c.2185+14374_2185+14380del ENSP00000506739.1:n.2185+14374_2185+14380...
ENST00000683270.1:c.4456_4462del ENSP00000507624.1:p.Asn1486GlnfsTer6
ENST00000683367.1:c.2177-9927_2177-9921del ENSP00000507780.1:n.2177-9927_2177-9921de...
ENST00000683489.1:c.2291+2174_2291+2180del ENSP00000508403.1:n.2291+2174_2291+2180de...
ENST00000683680.1:c.2318+2174_2318+2180del ENSP00000507223.1:n.2318+2174_2318+2180de...
ENST00000684163.1:c.2203+7400_2203+7406del ENSP00000508262.1:n.2203+7400_2203+7406de...
ENST00000684196.1:n.4543-9927_4543-9921del
ENST00000684325.1:c.2185+14374_2185+14380del ENSP00000508121.1:n.2185+14374_2185+14380...
ENST00000684385.1:c.2220+7400_2220+7406del ENSP00000507855.1:n.2220+7400_2220+7406de...
ENST00000684497.1:c.2185+14374_2185+14380del ENSP00000507057.1:n.2185+14374_2185+14380...
ENST00000382292.9:c.4465_4471del MANE Select ENSP00000371729.3:p.Asn1489GlnfsTer6
ENST00000423156.2:c.2186-9927_2186-9921del ENSP00000390925.2:n.2186-9927_2186-9921de...
ENST00000455470.6:c.2431+2034_2431+2040del ENSP00000406565.2:n.2431+2034_2431+2040de...
ENST00000382292.7:c.4465_4471del ENSP00000371729.3:p.Asn1489GlnfsTer6
ENST00000382298.7:c.4465_4471del ENSP00000371735.3:p.Asn1489GlnfsTer6
ENST00000402364.1:c.2215_2221del ENSP00000385844.1:p.Asn739GlnfsTer6
ENST00000423156.1:c.1058-9927_1058-9921del ENSP00000390925.1:n.1058-9927_1058-9921de...
ENST00000455470.5:c.2129+2034_2129+2040del
NM_001278055.1:c.4024_4030del NP_001264984.1:p.Asn1342GlnfsTer6
NM_014363.5:c.4465_4471del NP_055178.3:p.Asn1489GlnfsTer6
XM_005266338.1:c.4492_4498del XP_005266395.1:p.Asn1498GlnfsTer6
XM_011535038.1:c.4516_4522del XP_011533340.1:p.Asn1506GlnfsTer6
XM_011535039.1:c.4483_4489del XP_011533341.1:p.Asn1495GlnfsTer6
XM_005266338.2:c.4492_4498del XP_005266395.1:p.Asn1498GlnfsTer6
XM_011535039.2:c.4483_4489del XP_011533341.1:p.Asn1495GlnfsTer6
XM_017020539.1:c.4456_4462del XP_016876028.1:p.Asn1486GlnfsTer6
XM_024449337.1:c.4492_4498del XP_024305105.1:p.Asn1498GlnfsTer6
NM_014363.6:c.4465_4471del MANE Select NP_055178.3:p.Asn1489GlnfsTer6
NM_001278055.2:c.4024_4030del NP_001264984.1:p.Asn1342GlnfsTer6