Canonical Allele Identifier: CA2693353716
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25013532-CCG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013535_25013536del , CM000685.2:g.25013535_25013536del GRCh38
NC_000023.10:g.25031652_25031653del , CM000685.1:g.25031652_25031653del GRCh37
NC_000023.9:g.24941573_24941574del NCBI36
NG_008281.1:g.7415_7416del

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.461_462del MANE Select ENSP00000368332.4:p.Ala154GlyfsTer?
ENST00000379044.4:c.461_462del ENSP00000368332.4:p.Ala154GlyfsTer?
NM_139058.2:c.461_462del NP_620689.1:p.Ala154GlyfsTer?
NM_139058.3:c.461_462del MANE Select NP_620689.1:p.Ala154GlyfsTer?
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Search 100 bp 3'