Canonical Allele Identifier: CA16041605
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 370796
ClinVar RCV Id: RCV000410993
dbSNP Id: rs1057516773

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333024del , CM000675.2:g.23333024del GRCh38
NC_000013.10:g.23907163del , CM000675.1:g.23907163del GRCh37
NC_000013.9:g.22805163del NCBI36
NG_012342.1:g.105681del

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+20763del ENSP00000508399.1:n.2185+20763del
ENST00000682944.1:c.10881del ENSP00000507173.1:p.Glu3628LysfsTer27
ENST00000683210.1:c.2185+20763del ENSP00000506739.1:n.2185+20763del
ENST00000683270.1:c.6446-3538del ENSP00000507624.1:n.6446-3538del
ENST00000683367.1:c.2177-3538del ENSP00000507780.1:n.2177-3538del
ENST00000683489.1:c.2292-3070del ENSP00000508403.1:n.2292-3070del
ENST00000683680.1:c.2319-3070del ENSP00000507223.1:n.2319-3070del
ENST00000684163.1:c.2204-3538del ENSP00000508262.1:n.2204-3538del
ENST00000684196.1:n.4543-3538del
ENST00000684325.1:c.2186-11348del ENSP00000508121.1:n.2186-11348del
ENST00000684385.1:c.2221-3538del ENSP00000507855.1:n.2221-3538del
ENST00000684497.1:c.2186-10378del ENSP00000507057.1:n.2186-10378del
ENST00000382292.9:c.10854del MANE Select ENSP00000371729.3:p.Glu3619LysfsTer27
ENST00000423156.2:c.2186-3538del ENSP00000390925.2:n.2186-3538del
ENST00000455470.6:c.2432-3538del ENSP00000406565.2:n.2432-3538del
ENST00000382292.7:c.10854del ENSP00000371729.3:p.Glu3619LysfsTer27
ENST00000382298.7:c.10854del ENSP00000371735.3:p.Glu3619LysfsTer27
ENST00000402364.1:c.8604del ENSP00000385844.1:p.Glu2869LysfsTer27
ENST00000423156.1:c.1058-3538del ENSP00000390925.1:n.1058-3538del
ENST00000455470.5:c.2130-3538del
NM_001278055.1:c.10413del NP_001264984.1:p.Glu3472LysfsTer27
NM_014363.5:c.10854del NP_055178.3:p.Glu3619LysfsTer27
XM_005266338.1:c.10881del XP_005266395.1:p.Glu3628LysfsTer27
XM_011535038.1:c.10905del XP_011533340.1:p.Glu3636LysfsTer27
XM_011535039.1:c.10872del XP_011533341.1:p.Glu3625LysfsTer27
XM_005266338.2:c.10881del XP_005266395.1:p.Glu3628LysfsTer27
XM_011535039.2:c.10872del XP_011533341.1:p.Glu3625LysfsTer27
XM_017020539.1:c.10845del XP_016876028.1:p.Glu3616LysfsTer27
XM_024449337.1:c.10881del XP_024305105.1:p.Glu3628LysfsTer27
NM_014363.6:c.10854del MANE Select NP_055178.3:p.Glu3619LysfsTer27
NM_001278055.2:c.10413del NP_001264984.1:p.Glu3472LysfsTer27