Canonical Allele Identifier: CA16041600
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 371386
ClinVar RCV Id: RCV000411930
dbSNP Id: rs1057517232

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23332146del , CM000675.2:g.23332146del GRCh38
NC_000013.10:g.23906285del , CM000675.1:g.23906285del GRCh37
NC_000013.9:g.22804285del NCBI36
NG_012342.1:g.106558del

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2186-20030del ENSP00000508399.1:n.2186-20030del
ENST00000682944.1:c.11758del ENSP00000507173.1:p.Ser3920AlafsTer7
ENST00000683210.1:c.2185+21640del ENSP00000506739.1:n.2185+21640del
ENST00000683270.1:c.6446-2661del ENSP00000507624.1:n.6446-2661del
ENST00000683367.1:c.2177-2661del ENSP00000507780.1:n.2177-2661del
ENST00000683489.1:c.2292-2193del ENSP00000508403.1:n.2292-2193del
ENST00000683680.1:c.2319-2193del ENSP00000507223.1:n.2319-2193del
ENST00000684163.1:c.2204-2661del ENSP00000508262.1:n.2204-2661del
ENST00000684196.1:n.4543-2661del
ENST00000684325.1:c.2186-10471del ENSP00000508121.1:n.2186-10471del
ENST00000684385.1:c.2221-2661del ENSP00000507855.1:n.2221-2661del
ENST00000684497.1:c.2186-9501del ENSP00000507057.1:n.2186-9501del
ENST00000382292.9:c.11731del MANE Select ENSP00000371729.3:p.Ser3911AlafsTer7
ENST00000423156.2:c.2186-2661del ENSP00000390925.2:n.2186-2661del
ENST00000455470.6:c.2432-2661del ENSP00000406565.2:n.2432-2661del
ENST00000382292.7:c.11731del ENSP00000371729.3:p.Ser3911AlafsTer7
ENST00000382298.7:c.11731del ENSP00000371735.3:p.Ser3911AlafsTer7
ENST00000402364.1:c.9481del ENSP00000385844.1:p.Ser3161AlafsTer7
ENST00000423156.1:c.1058-2661del ENSP00000390925.1:n.1058-2661del
ENST00000455470.5:c.2130-2661del
NM_001278055.1:c.11290del NP_001264984.1:p.Ser3764AlafsTer7
NM_014363.5:c.11731del NP_055178.3:p.Ser3911AlafsTer7
XM_005266338.1:c.11758del XP_005266395.1:p.Ser3920AlafsTer7
XM_011535038.1:c.11782del XP_011533340.1:p.Ser3928AlafsTer7
XM_011535039.1:c.11749del XP_011533341.1:p.Ser3917AlafsTer7
XM_005266338.2:c.11758del XP_005266395.1:p.Ser3920AlafsTer7
XM_011535039.2:c.11749del XP_011533341.1:p.Ser3917AlafsTer7
XM_017020539.1:c.11722del XP_016876028.1:p.Ser3908AlafsTer7
XM_024449337.1:c.11758del XP_024305105.1:p.Ser3920AlafsTer7
NM_014363.6:c.11731del MANE Select NP_055178.3:p.Ser3911AlafsTer7
NM_001278055.2:c.11290del NP_001264984.1:p.Ser3764AlafsTer7