Canonical Allele Identifier: CA213346
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 210321
ClinVar RCV Id: RCV000195080 RCV001815243
dbSNP Id: rs797045292
MyVariant Identifiers: chrX:g.25023005dupG (hg19) chrX:g.25023004_25023005insG (hg19) chrX:g.25004888dupG (hg38) chrX:g.25004887_25004888insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004893dup , CM000685.2:g.25004893dup GRCh38
NC_000023.10:g.25023010dup , CM000685.1:g.25023010dup GRCh37
NC_000023.9:g.24932931dup NCBI36
NG_008281.1:g.16061dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1471dup MANE Select ENSP00000368332.4:p.Leu491ProfsTer?
ENST00000636885.1:n.59dup
ENST00000379044.4:c.1471dup ENSP00000368332.4:p.Leu491ProfsTer?
NM_139058.2:c.1471dup NP_620689.1:p.Leu491ProfsTer?
NM_139058.3:c.1471dup MANE Select NP_620689.1:p.Leu491ProfsTer?
Search 100 bp 5'
Search 100 bp 3'