Canonical Allele Identifier: CA658799627
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 540221
ClinVar RCV Id: RCV000650179
dbSNP Id: rs1556055511

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013263_25013325del , CM000685.2:g.25013263_25013325del GRCh38
NC_000023.10:g.25031380_25031442del , CM000685.1:g.25031380_25031442del GRCh37
NC_000023.9:g.24941301_24941363del NCBI36
NG_008281.1:g.7656_7718del

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.702_764del MANE Select ENSP00000368332.4:p.Glu234_Asp254del
ENST00000379044.4:c.702_764del ENSP00000368332.4:p.Glu234_Asp254del
NM_139058.2:c.702_764del NP_620689.1:p.Glu234_Asp254del
NM_139058.3:c.702_764del MANE Select NP_620689.1:p.Glu234_Asp254del