Canonical Allele Identifier: CA16041645
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 370607
ClinVar RCV Id: RCV000411525
dbSNP Id: rs1057516624

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23341008del , CM000675.2:g.23341008del GRCh38
NC_000013.10:g.23915147del , CM000675.1:g.23915147del GRCh37
NC_000013.9:g.22813147del NCBI36
NG_012342.1:g.97697del

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+12779del ENSP00000508399.1:n.2185+12779del
ENST00000682944.1:c.2897del ENSP00000507173.1:p.Pro966GlnfsTer10
ENST00000683210.1:c.2185+12779del ENSP00000506739.1:n.2185+12779del
ENST00000683270.1:c.2861del ENSP00000507624.1:p.Pro954GlnfsTer10
ENST00000683367.1:c.2177-11522del ENSP00000507780.1:n.2177-11522del
ENST00000683489.1:c.2291+579del ENSP00000508403.1:n.2291+579del
ENST00000683680.1:c.2318+579del ENSP00000507223.1:n.2318+579del
ENST00000684163.1:c.2203+5805del ENSP00000508262.1:n.2203+5805del
ENST00000684196.1:n.4543-11522del
ENST00000684325.1:c.2185+12779del ENSP00000508121.1:n.2185+12779del
ENST00000684385.1:c.2220+5805del ENSP00000507855.1:n.2220+5805del
ENST00000684497.1:c.2185+12779del ENSP00000507057.1:n.2185+12779del
ENST00000382292.9:c.2870del MANE Select ENSP00000371729.3:p.Pro957GlnfsTer10
ENST00000423156.2:c.2186-11522del ENSP00000390925.2:n.2186-11522del
ENST00000455470.6:c.2431+439del ENSP00000406565.2:n.2431+439del
ENST00000382292.7:c.2870del ENSP00000371729.3:p.Pro957GlnfsTer10
ENST00000382298.7:c.2870del ENSP00000371735.3:p.Pro957GlnfsTer10
ENST00000402364.1:c.620del ENSP00000385844.1:p.Pro207GlnfsTer10
ENST00000423156.1:c.1058-11522del ENSP00000390925.1:n.1058-11522del
ENST00000455470.5:c.2129+439del
NM_001278055.1:c.2429del NP_001264984.1:p.Pro810GlnfsTer10
NM_014363.5:c.2870del NP_055178.3:p.Pro957GlnfsTer10
XM_005266338.1:c.2897del XP_005266395.1:p.Pro966GlnfsTer10
XM_011535038.1:c.2921del XP_011533340.1:p.Pro974GlnfsTer10
XM_011535039.1:c.2888del XP_011533341.1:p.Pro963GlnfsTer10
XM_005266338.2:c.2897del XP_005266395.1:p.Pro966GlnfsTer10
XM_011535039.2:c.2888del XP_011533341.1:p.Pro963GlnfsTer10
XM_017020539.1:c.2861del XP_016876028.1:p.Pro954GlnfsTer10
XM_024449337.1:c.2897del XP_024305105.1:p.Pro966GlnfsTer10
NM_014363.6:c.2870del MANE Select NP_055178.3:p.Pro957GlnfsTer10
NM_001278055.2:c.2429del NP_001264984.1:p.Pro810GlnfsTer10