Canonical Allele Identifier: CA2693353714
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25013529-AG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013531del , CM000685.2:g.25013531del GRCh38
NC_000023.10:g.25031648del , CM000685.1:g.25031648del GRCh37
NC_000023.9:g.24941569del NCBI36
NG_008281.1:g.7419del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.465del MANE Select ENSP00000368332.4:p.Trp156GlyfsTer12
ENST00000379044.4:c.465del ENSP00000368332.4:p.Trp156GlyfsTer12
NM_139058.2:c.465del NP_620689.1:p.Trp156GlyfsTer12
NM_139058.3:c.465del MANE Select NP_620689.1:p.Trp156GlyfsTer12
Search 100 bp 5'
Search 100 bp 3'