Canonical Allele Identifier: CA213236
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 157756
ClinVar RCV Id: RCV000145055
dbSNP Id: rs587783199

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013631_25013664del , CM000685.2:g.25013631_25013664del GRCh38
NC_000023.10:g.25031748_25031781del , CM000685.1:g.25031748_25031781del GRCh37
NC_000023.9:g.24941669_24941702del NCBI36
NG_008281.1:g.7289_7322del

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.335_368del MANE Select ENSP00000368332.4:p.Ala112GlyfsTer?
ENST00000379044.4:c.335_368del ENSP00000368332.4:p.Ala112GlyfsTer?
NM_139058.2:c.335_368del NP_620689.1:p.Ala112GlyfsTer?
NM_139058.3:c.335_368del MANE Select NP_620689.1:p.Ala112GlyfsTer?