Canonical Allele Identifier: CA658656855
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 473011
ClinVar RCV Id: RCV000558205
dbSNP Id: rs1556056154
gnomAD v4: X-25013536-G-GGCGGCCGCGGCCGCGGCTGCCGCGGCGGCCCCT
MyVariant Identifiers: chrX:g.25031654_25031686dup (hg19) chrX:g.25013537_25013569dup (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013540_25013572dup , CM000685.2:g.25013540_25013572dup GRCh38
NC_000023.10:g.25031657_25031689dup , CM000685.1:g.25031657_25031689dup GRCh37
NC_000023.9:g.24941578_24941610dup NCBI36
NG_008281.1:g.7380_7412dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.426_458dup MANE Select ENSP00000368332.4:p.Ala153_Ala154insGlyAlaAlaAlaAlaAlaAlaAlaA...
ENST00000379044.4:c.426_458dup ENSP00000368332.4:p.Ala153_Ala154insGlyAlaAlaAlaAlaAlaAlaAlaA...
NM_139058.2:c.426_458dup NP_620689.1:p.Ala153_Ala154insGlyAlaAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_139058.3:c.426_458dup MANE Select NP_620689.1:p.Ala153_Ala154insGlyAlaAlaAlaAlaAlaAlaAlaAlaAlaA...
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