Canonical Allele Identifier: CA2573149148
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 1455607
ClinVar RCV Id: RCV001958663
dbSNP Id: rs2137619202

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23338483_23338484del , CM000675.2:g.23338483_23338484del GRCh38
NC_000013.10:g.23912622_23912623del , CM000675.1:g.23912622_23912623del GRCh37
NC_000013.9:g.22810622_22810623del NCBI36
NG_012342.1:g.100220_100221del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+15302_2185+15303del ENSP00000508399.1:n.2185+15302_2185+15303del
ENST00000682944.1:c.5420_5421del ENSP00000507173.1:p.Ser1807TrpfsTer9
ENST00000683210.1:c.2185+15302_2185+15303del ENSP00000506739.1:n.2185+15302_2185+15303del
ENST00000683270.1:c.5384_5385del ENSP00000507624.1:p.Ser1795TrpfsTer9
ENST00000683367.1:c.2177-8999_2177-8998del ENSP00000507780.1:n.2177-8999_2177-8998del
ENST00000683489.1:c.2291+3102_2291+3103del ENSP00000508403.1:n.2291+3102_2291+3103del
ENST00000683680.1:c.2318+3102_2318+3103del ENSP00000507223.1:n.2318+3102_2318+3103del
ENST00000684163.1:c.2203+8328_2203+8329del ENSP00000508262.1:n.2203+8328_2203+8329del
ENST00000684196.1:n.4543-8999_4543-8998del
ENST00000684325.1:c.2185+15302_2185+15303del ENSP00000508121.1:n.2185+15302_2185+15303del
ENST00000684385.1:c.2220+8328_2220+8329del ENSP00000507855.1:n.2220+8328_2220+8329del
ENST00000684497.1:c.2185+15302_2185+15303del ENSP00000507057.1:n.2185+15302_2185+15303del
ENST00000382292.9:c.5393_5394del MANE Select ENSP00000371729.3:p.Ser1798TrpfsTer9
ENST00000423156.2:c.2186-8999_2186-8998del ENSP00000390925.2:n.2186-8999_2186-8998del
ENST00000455470.6:c.2431+2962_2431+2963del ENSP00000406565.2:n.2431+2962_2431+2963del
ENST00000382292.7:c.5393_5394del ENSP00000371729.3:p.Ser1798TrpfsTer9
ENST00000382298.7:c.5393_5394del ENSP00000371735.3:p.Ser1798TrpfsTer9
ENST00000402364.1:c.3143_3144del ENSP00000385844.1:p.Ser1048TrpfsTer9
ENST00000423156.1:c.1058-8999_1058-8998del ENSP00000390925.1:n.1058-8999_1058-8998del
ENST00000455470.5:c.2129+2962_2129+2963del
NM_001278055.1:c.4952_4953del NP_001264984.1:p.Ser1651TrpfsTer9
NM_014363.5:c.5393_5394del NP_055178.3:p.Ser1798TrpfsTer9
XM_005266338.1:c.5420_5421del XP_005266395.1:p.Ser1807TrpfsTer9
XM_011535038.1:c.5444_5445del XP_011533340.1:p.Ser1815TrpfsTer9
XM_011535039.1:c.5411_5412del XP_011533341.1:p.Ser1804TrpfsTer9
XM_005266338.2:c.5420_5421del XP_005266395.1:p.Ser1807TrpfsTer9
XM_011535039.2:c.5411_5412del XP_011533341.1:p.Ser1804TrpfsTer9
XM_017020539.1:c.5384_5385del XP_016876028.1:p.Ser1795TrpfsTer9
XM_024449337.1:c.5420_5421del XP_024305105.1:p.Ser1807TrpfsTer9
NM_014363.6:c.5393_5394del MANE Select NP_055178.3:p.Ser1798TrpfsTer9
NM_001278055.2:c.4952_4953del NP_001264984.1:p.Ser1651TrpfsTer9