Canonical Allele Identifier: CA874147897
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 2930060
ClinVar RCV Id: RCV003787418
dbSNP Id: rs1173274153
MyVariant Identifiers: chrX:g.25031771_25031776del (hg19) chrX:g.25013654_25013659del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013659_25013664del , CM000685.2:g.25013659_25013664del GRCh38
NC_000023.10:g.25031776_25031781del , CM000685.1:g.25031776_25031781del GRCh37
NC_000023.9:g.24941697_24941702del NCBI36
NG_008281.1:g.7290_7295del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.336_341del MANE Select ENSP00000368332.4:p.Ala113_Ala114del
ENST00000379044.4:c.336_341del ENSP00000368332.4:p.Ala113_Ala114del
NM_139058.2:c.336_341del NP_620689.1:p.Ala113_Ala114del
NM_139058.3:c.336_341del MANE Select NP_620689.1:p.Ala113_Ala114del
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