Canonical Allele Identifier: CA641364634
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 1046214
ClinVar RCV Id: RCV001350737
dbSNP Id: rs1251374008
gnomAD v2: X-25031646-AGGCCGCGGCGGCCGCGGCCGCGGCTGCCGCGGC-A
gnomAD v3: X-25013529-AGGCCGCGGCGGCCGCGGCCGCGGCTGCCGCGGC-A
gnomAD v4: X-25013529-AGGCCGCGGCGGCCGCGGCCGCGGCTGCCGCGGC-A
MyVariant Identifiers: chrX:g.25031647_25031679del (hg19) chrX:g.25013530_25013562del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013534_25013566del , CM000685.2:g.25013534_25013566del GRCh38
NC_000023.10:g.25031651_25031683del , CM000685.1:g.25031651_25031683del GRCh37
NC_000023.9:g.24941572_24941604del NCBI36
NG_008281.1:g.7387_7419del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.433_465del MANE Select ENSP00000368332.4:p.Ala145_Ala155del
ENST00000379044.4:c.433_465del ENSP00000368332.4:p.Ala145_Ala155del
NM_139058.2:c.433_465del NP_620689.1:p.Ala145_Ala155del
NM_139058.3:c.433_465del MANE Select NP_620689.1:p.Ala145_Ala155del
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