Canonical Allele Identifier: CA874148013
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 969560
ClinVar RCV Id: RCV001244937 RCV002436965
dbSNP Id: rs1156871090
gnomAD v4: X-25013677-CGCCGCCGCCGCCGCT-C
MyVariant Identifiers: chrX:g.25031795_25031809del (hg19) chrX:g.25013678_25013692del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013683_25013697del , CM000685.2:g.25013683_25013697del GRCh38
NC_000023.10:g.25031800_25031814del , CM000685.1:g.25031800_25031814del GRCh37
NC_000023.9:g.24941721_24941735del NCBI36
NG_008281.1:g.7257_7271del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.303_317del MANE Select ENSP00000368332.4:p.Ala102_Ala106del
ENST00000379044.4:c.303_317del ENSP00000368332.4:p.Ala102_Ala106del
NM_139058.2:c.303_317del NP_620689.1:p.Ala102_Ala106del
NM_139058.3:c.303_317del MANE Select NP_620689.1:p.Ala102_Ala106del
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