Canonical Allele Identifier: CA2693353720
Gene: ARX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013538del , CM000685.2:g.25013538del GRCh38
NC_000023.10:g.25031655del , CM000685.1:g.25031655del GRCh37
NC_000023.9:g.24941576del NCBI36
NG_008281.1:g.7411del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.457del MANE Select ENSP00000368332.4:p.Ala153ProfsTer15
ENST00000379044.4:c.457del ENSP00000368332.4:p.Ala153ProfsTer15
NM_139058.2:c.457del NP_620689.1:p.Ala153ProfsTer15
NM_139058.3:c.457del MANE Select NP_620689.1:p.Ala153ProfsTer15