Canonical Allele Identifier: CA657769456
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs1283032831

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010173del , CM000685.2:g.25010173del GRCh38
NC_000023.10:g.25028290del , CM000685.1:g.25028290del GRCh37
NC_000023.9:g.24938211del NCBI36
NG_008281.1:g.10781del

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1119+92del MANE Select ENSP00000368332.4:n.1119+92del
ENST00000379044.4:c.1119+92del ENSP00000368332.4:n.1119+92del
NM_139058.2:c.1119+92del NP_620689.1:n.1119+92del
NM_139058.3:c.1119+92del MANE Select NP_620689.1:n.1119+92del