Canonical Allele Identifier: CA213237
Gene: ARX HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 157759
ClinVar RCV Id: RCV000145058
dbSNP Id: rs587783202

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013379del , CM000685.2:g.25013379del GRCh38
NC_000023.10:g.25031496del , CM000685.1:g.25031496del GRCh37
NC_000023.9:g.24941417del NCBI36
NG_008281.1:g.7571del

Transcript Alleles

HGVS Amino-acid change
NM_139058.2:c.617del VV NP_620689.1:p.Gly206AlafsTer?
NM_139058.3:c.617del VV MANE Preferred NP_620689.1:p.Gly206AlafsTer?
ENST00000379044.4:c.617del ENSP00000368332.4:p.Gly206AlafsTer?