Canonical Allele Identifier: CA645373294
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 434399
ClinVar RCV Id: RCV000499805
dbSNP Id: rs1556046720
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004810_25004824delinsCTGCGCC , CM000685.2:g.25004810_25004824delinsCTGCGCC GRCh38
NC_000023.10:g.25022927_25022941delinsCTGCGCC , CM000685.1:g.25022927_25022941delinsCTGCGCC GRCh37
NC_000023.9:g.24932848_24932862delinsCTGCGCC NCBI36
NG_008281.1:g.16125_16139delinsGGCGCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1535_1549delinsGGCGCAG MANE Select ENSP00000368332.4:p.Val512GlyfsTer17
ENST00000379044.4:c.1535_1549delinsGGCGCAG ENSP00000368332.4:p.Val512GlyfsTer17
NM_139058.2:c.1535_1549delinsGGCGCAG NP_620689.1:p.Val512GlyfsTer17
NM_139058.3:c.1535_1549delinsGGCGCAG MANE Select NP_620689.1:p.Val512GlyfsTer17
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