Canonical Allele Identifier: CA358357
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 224076
ClinVar RCV Id: RCV000209847
dbSNP Id: rs869312662

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25012988_25012993delinsTGGTACA , CM000685.2:g.25012988_25012993delinsTGGTACA GRCh38
NC_000023.10:g.25031105_25031110delinsTGGTACA , CM000685.1:g.25031105_25031110delinsTGGTACA GRCh37
NC_000023.9:g.24941026_24941031delinsTGGTACA NCBI36
NG_008281.1:g.7956_7961delinsTGTACCA

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1002_1007delinsTGTACCA MANE Select ENSP00000368332.4:p.Phe335ValfsTer?
ENST00000379044.4:c.1002_1007delinsTGTACCA ENSP00000368332.4:p.Phe335ValfsTer?
NM_139058.2:c.1002_1007delinsTGTACCA NP_620689.1:p.Phe335ValfsTer?
NM_139058.3:c.1002_1007delinsTGTACCA MANE Select NP_620689.1:p.Phe335ValfsTer?