Canonical Allele Identifier: CA213322
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 96455
dbSNP Id: rs398124510

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013543_25013566dup , CM000685.2:g.25013543_25013566dup GRCh38
NC_000023.10:g.25031660_25031683dup , CM000685.1:g.25031660_25031683dup GRCh37
NC_000023.9:g.24941581_24941604dup NCBI36
NG_008281.1:g.7395_7418dup

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.441_464dup MANE Select ENSP00000368332.4:p.Ala155_Trp156insAlaAl...
ENST00000379044.4:c.441_464dup ENSP00000368332.4:p.Ala155_Trp156insAlaAl...
NM_139058.2:c.441_464dup NP_620689.1:p.Ala155_Trp156insAlaAlaAlaAl...
NM_139058.3:c.441_464dup MANE Select NP_620689.1:p.Ala155_Trp156insAlaAlaAlaAl...