Canonical Allele Identifier: CA327733054
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 1996210
ClinVar RCV Id: RCV002801886
dbSNP Id: rs398124512
gnomAD v2: X-25031653-GGCGGCC-G
gnomAD v4: X-25013536-GGCGGCC-G
MyVariant Identifiers: chrX:g.25031654_25031659del (hg19) chrX:g.25013537_25013542del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013548_25013553del , CM000685.2:g.25013548_25013553del GRCh38
NC_000023.10:g.25031665_25031670del , CM000685.1:g.25031665_25031670del GRCh37
NC_000023.9:g.24941586_24941591del NCBI36
NG_008281.1:g.7407_7412del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.453_458del MANE Select ENSP00000368332.4:p.Ala152_Ala153del
ENST00000379044.4:c.453_458del ENSP00000368332.4:p.Ala152_Ala153del
NM_139058.2:c.453_458del NP_620689.1:p.Ala152_Ala153del
NM_139058.3:c.453_458del MANE Select NP_620689.1:p.Ala152_Ala153del
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