Canonical Allele Identifier: CA16041641
Gene: SACS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371143
ClinVar RCV Id: RCV000412109
dbSNP Id: rs1057517039

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23340521del , CM000675.2:g.23340521del GRCh38
NC_000013.9:g.22812660del NCBI36
NC_000013.10:g.23914660del , CM000675.1:g.23914660del GRCh37
NG_012342.1:g.98183del

Transcript Alleles

HGVS Amino-acid change
ENST00000382292.7:c.3356del ENSP00000371729.3:p.Pro1119LeufsTer7
ENST00000382298.7:c.3356del ENSP00000371735.3:p.Pro1119LeufsTer7
ENST00000402364.1:c.1106del ENSP00000385844.1:p.Pro369LeufsTer7
ENST00000423156.1:n.1058-11036del ENSP00000390925.1:p.=
ENST00000455470.5:n.2129+925del
NM_001278055.1:c.2915del VV NP_001264984.1:p.Pro972LeufsTer7
NM_014363.5:c.3356del VV NP_055178.3:p.Pro1119LeufsTer7
XM_005266338.1:c.3383del XP_005266395.1:p.Pro1128LeufsTer7
XM_011535038.1:c.3407del XP_011533340.1:p.Pro1136LeufsTer7
XM_011535039.1:c.3374del XP_011533341.1:p.Pro1125LeufsTer7