Canonical Allele Identifier: CA2573158501
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 1554862
ClinVar RCV Id: RCV002199743
dbSNP Id: rs2147324216
gnomAD v4: X-25013548-CGCGGCTGCCGCGGCG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013551_25013565del , CM000685.2:g.25013551_25013565del GRCh38
NC_000023.10:g.25031668_25031682del , CM000685.1:g.25031668_25031682del GRCh37
NC_000023.9:g.24941589_24941603del NCBI36
NG_008281.1:g.7386_7400del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.432_446del MANE Select ENSP00000368332.4:p.Ala145_Ala149del
ENST00000379044.4:c.432_446del ENSP00000368332.4:p.Ala145_Ala149del
NM_139058.2:c.432_446del NP_620689.1:p.Ala145_Ala149del
NM_139058.3:c.432_446del MANE Select NP_620689.1:p.Ala145_Ala149del
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