Canonical Allele Identifier: CA2693353709
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25013521-CG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013522del , CM000685.2:g.25013522del GRCh38
NC_000023.10:g.25031639del , CM000685.1:g.25031639del GRCh37
NC_000023.9:g.24941560del NCBI36
NG_008281.1:g.7427del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.473del MANE Select ENSP00000368332.4:p.Thr158SerfsTer10
ENST00000379044.4:c.473del ENSP00000368332.4:p.Thr158SerfsTer10
NM_139058.2:c.473del NP_620689.1:p.Thr158SerfsTer10
NM_139058.3:c.473del MANE Select NP_620689.1:p.Thr158SerfsTer10
Search 100 bp 5'
Search 100 bp 3'