Canonical Allele Identifier: CA16041652
Gene: SACS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370332
ClinVar RCV Id: RCV000409220
dbSNP Id: rs1057516406

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23355336_23355337dup , CM000675.2:g.23355336_23355337dup GRCh38
NC_000013.10:g.23929475_23929476dup , CM000675.1:g.23929475_23929476dup GRCh37
NC_000013.9:g.22827475_22827476dup NCBI36
NG_012342.1:g.83367_83368dup

Transcript Alleles

HGVS Amino-acid change
NM_001278055.1:c.835_836dup VV NP_001264984.1:p.Leu279PhefsTer?
NM_014363.5:c.1276_1277dup VV NP_055178.3:p.Leu426PhefsTer?
XM_005266338.1:c.1276_1277dup XP_005266395.1:p.Leu426PhefsTer?
XM_011535038.1:c.1300_1301dup XP_011533340.1:p.Leu434PhefsTer?
XM_011535039.1:c.1267_1268dup XP_011533341.1:p.Leu423PhefsTer?
XM_005266338.2:c.1276_1277dup
XM_011535039.2:c.1267_1268dup
XM_017020539.1:c.1267_1268dup XP_016876028.1:p.Leu423PhefsTer?
XM_024449337.1:c.1276_1277dup XP_024305105.1:p.Leu426PhefsTer?
ENST00000382292.7:c.1276_1277dup ENSP00000371729.3:p.Leu426PhefsTer?
ENST00000382298.7:c.1276_1277dup ENSP00000371735.3:p.Leu426PhefsTer?
ENST00000402364.1:c.-975_-974dup ENSP00000385844.1:p.=
ENST00000423156.1:n.148_149dup ENSP00000390925.1:p.Leu50PhefsTer?
ENST00000455470.5:n.974_975dup