Canonical Allele Identifier: CA874147723
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 1235070
ClinVar RCV Id: RCV001621834 RCV002072935
dbSNP Id: rs387906493
gnomAD v3: X-25013543-GCGGCCGCGGCTGCCGCGGCGGCCC-G
gnomAD v4: X-25013543-GCGGCCGCGGCTGCCGCGGCGGCCC-G
MyVariant Identifiers: chrX:g.25031661_25031684del (hg19) chrX:g.25013544_25013567del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013545_25013568del , CM000685.2:g.25013545_25013568del GRCh38
NC_000023.10:g.25031662_25031685del , CM000685.1:g.25031662_25031685del GRCh37
NC_000023.9:g.24941583_24941606del NCBI36
NG_008281.1:g.7382_7405del

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.428_451del MANE Select ENSP00000368332.4:p.Gly143_Ala150del
ENST00000379044.4:c.428_451del ENSP00000368332.4:p.Gly143_Ala150del
NM_139058.2:c.428_451del NP_620689.1:p.Gly143_Ala150del
NM_139058.3:c.428_451del MANE Select NP_620689.1:p.Gly143_Ala150del
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