Canonical Allele Identifier: CA16041613
Gene: SACS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371167
ClinVar RCV Id: RCV000410750
dbSNP Id: rs1057517060

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23334788_23334789dup , CM000675.2:g.23334788_23334789dup GRCh38
NC_000013.10:g.23908927_23908928dup , CM000675.1:g.23908927_23908928dup GRCh37
NC_000013.9:g.22806927_22806928dup NCBI36
NG_012342.1:g.103915_103916dup

Transcript Alleles

HGVS Amino-acid change
NM_001278055.1:c.8647_8648dup VV NP_001264984.1:p.Leu2883PhefsTer23
NM_014363.5:c.9088_9089dup VV NP_055178.3:p.Leu3030PhefsTer23
XM_005266338.1:c.9115_9116dup XP_005266395.1:p.Leu3039PhefsTer23
XM_011535038.1:c.9139_9140dup XP_011533340.1:p.Leu3047PhefsTer23
XM_011535039.1:c.9106_9107dup XP_011533341.1:p.Leu3036PhefsTer23
XM_005266338.2:c.9115_9116dup
XM_011535039.2:c.9106_9107dup
XM_017020539.1:c.9079_9080dup XP_016876028.1:p.Leu3027PhefsTer23
XM_024449337.1:c.9115_9116dup XP_024305105.1:p.Leu3039PhefsTer23
ENST00000382292.7:c.9088_9089dup ENSP00000371729.3:p.Leu3030PhefsTer23
ENST00000382298.7:c.9088_9089dup ENSP00000371735.3:p.Leu3030PhefsTer23
ENST00000402364.1:c.6838_6839dup ENSP00000385844.1:p.Leu2280PhefsTer23
ENST00000423156.1:n.1058-5304_1058-5303dup ENSP00000390925.1:p.=
ENST00000455470.5:n.2130-5304_2130-5303dup