Canonical Allele Identifier: CA2573158494
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 1526057
ClinVar RCV Id: RCV002052077
dbSNP Id: rs2147320576
gnomAD v4: X-25007352-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007356del , CM000685.2:g.25007356del GRCh38
NC_000023.10:g.25025473del , CM000685.1:g.25025473del GRCh37
NC_000023.9:g.24935394del NCBI36
NG_008281.1:g.13596del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1206del MANE Select ENSP00000368332.4:p.Pro403ArgfsTer?
ENST00000379044.4:c.1206del ENSP00000368332.4:p.Pro403ArgfsTer?
NM_139058.2:c.1206del NP_620689.1:p.Pro403ArgfsTer?
NM_139058.3:c.1206del MANE Select NP_620689.1:p.Pro403ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'