Canonical Allele Identifier: CA16041644
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 371137
ClinVar RCV Id: RCV000409133
dbSNP Id: rs1057517034

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23340962_23340963dup , CM000675.2:g.23340962_23340963dup GRCh38
NC_000013.10:g.23915101_23915102dup , CM000675.1:g.23915101_23915102dup GRCh37
NC_000013.9:g.22813101_22813102dup NCBI36
NG_012342.1:g.97740_97741dup

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+12822_2185+12823dup ENSP00000508399.1:n.2185+12822_2185+12823...
ENST00000682944.1:c.2940_2941dup ENSP00000507173.1:p.Glu981ValfsTer11
ENST00000683210.1:c.2185+12822_2185+12823dup ENSP00000506739.1:n.2185+12822_2185+12823...
ENST00000683270.1:c.2904_2905dup ENSP00000507624.1:p.Glu969ValfsTer11
ENST00000683367.1:c.2177-11479_2177-11478dup ENSP00000507780.1:n.2177-11479_2177-11478...
ENST00000683489.1:c.2291+622_2291+623dup ENSP00000508403.1:n.2291+622_2291+623dup
ENST00000683680.1:c.2318+622_2318+623dup ENSP00000507223.1:n.2318+622_2318+623dup
ENST00000684163.1:c.2203+5848_2203+5849dup ENSP00000508262.1:n.2203+5848_2203+5849du...
ENST00000684196.1:n.4543-11479_4543-11478dup
ENST00000684325.1:c.2185+12822_2185+12823dup ENSP00000508121.1:n.2185+12822_2185+12823...
ENST00000684385.1:c.2220+5848_2220+5849dup ENSP00000507855.1:n.2220+5848_2220+5849du...
ENST00000684497.1:c.2185+12822_2185+12823dup ENSP00000507057.1:n.2185+12822_2185+12823...
ENST00000382292.9:c.2913_2914dup MANE Select ENSP00000371729.3:p.Glu972ValfsTer11
ENST00000423156.2:c.2186-11479_2186-11478dup ENSP00000390925.2:n.2186-11479_2186-11478...
ENST00000455470.6:c.2431+482_2431+483dup ENSP00000406565.2:n.2431+482_2431+483dup
ENST00000382292.7:c.2913_2914dup ENSP00000371729.3:p.Glu972ValfsTer11
ENST00000382298.7:c.2913_2914dup ENSP00000371735.3:p.Glu972ValfsTer11
ENST00000402364.1:c.663_664dup ENSP00000385844.1:p.Glu222ValfsTer11
ENST00000423156.1:c.1058-11479_1058-11478dup ENSP00000390925.1:n.1058-11479_1058-11478...
ENST00000455470.5:c.2129+482_2129+483dup
NM_001278055.1:c.2472_2473dup NP_001264984.1:p.Glu825ValfsTer11
NM_014363.5:c.2913_2914dup NP_055178.3:p.Glu972ValfsTer11
XM_005266338.1:c.2940_2941dup XP_005266395.1:p.Glu981ValfsTer11
XM_011535038.1:c.2964_2965dup XP_011533340.1:p.Glu989ValfsTer11
XM_011535039.1:c.2931_2932dup XP_011533341.1:p.Glu978ValfsTer11
XM_005266338.2:c.2940_2941dup XP_005266395.1:p.Glu981ValfsTer11
XM_011535039.2:c.2931_2932dup XP_011533341.1:p.Glu978ValfsTer11
XM_017020539.1:c.2904_2905dup XP_016876028.1:p.Glu969ValfsTer11
XM_024449337.1:c.2940_2941dup XP_024305105.1:p.Glu981ValfsTer11
NM_014363.6:c.2913_2914dup MANE Select NP_055178.3:p.Glu972ValfsTer11
NM_001278055.2:c.2472_2473dup NP_001264984.1:p.Glu825ValfsTer11