Canonical Allele Identifier: CA2740092070
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 2950977
ClinVar RCV Id: RCV003802239
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013509_25013512del , CM000685.2:g.25013509_25013512del GRCh38
NC_000023.10:g.25031626_25031629del , CM000685.1:g.25031626_25031629del GRCh37
NC_000023.9:g.24941547_24941550del NCBI36
NG_008281.1:g.7440_7443del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.486_489del MANE Select ENSP00000368332.4:p.Ser162ArgfsTer5
ENST00000379044.4:c.486_489del ENSP00000368332.4:p.Ser162ArgfsTer5
NM_139058.2:c.486_489del NP_620689.1:p.Ser162ArgfsTer5
NM_139058.3:c.486_489del MANE Select NP_620689.1:p.Ser162ArgfsTer5
Search 100 bp 5'
Search 100 bp 3'