Canonical Allele Identifier: CA16041642
Gene: SACS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370516
ClinVar RCV Id: RCV000411216
dbSNP Id: rs1057516551

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23340682_23340683del , CM000675.2:g.23340682_23340683del GRCh38
NC_000013.10:g.23914821_23914822del , CM000675.1:g.23914821_23914822del GRCh37
NC_000013.9:g.22812821_22812822del NCBI36
NG_012342.1:g.98022_98023del

Transcript Alleles

HGVS Amino-acid change
NM_001278055.1:c.2754_2755del VV NP_001264984.1:p.Phe918LeufsTer2
NM_014363.5:c.3195_3196del VV NP_055178.3:p.Phe1065LeufsTer2
XM_005266338.1:c.3222_3223del XP_005266395.1:p.Phe1074LeufsTer2
XM_011535038.1:c.3246_3247del XP_011533340.1:p.Phe1082LeufsTer2
XM_011535039.1:c.3213_3214del XP_011533341.1:p.Phe1071LeufsTer2
XM_005266338.2:c.3222_3223del
XM_011535039.2:c.3213_3214del
XM_017020539.1:c.3186_3187del XP_016876028.1:p.Phe1062LeufsTer2
XM_024449337.1:c.3222_3223del XP_024305105.1:p.Phe1074LeufsTer2
NM_014363.6:c.3195_3196del VV MANE Preferred
ENST00000382292.7:c.3195_3196del ENSP00000371729.3:p.Phe1065LeufsTer2
ENST00000382298.7:c.3195_3196del ENSP00000371735.3:p.Phe1065LeufsTer2
ENST00000402364.1:c.945_946del ENSP00000385844.1:p.Phe315LeufsTer2
ENST00000423156.1:n.1058-11197_1058-11196del ENSP00000390925.1:p.=
ENST00000455470.5:n.2129+764_2129+765del