Canonical Allele Identifier: CA2579637374
Gene: ARX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007509del , CM000685.2:g.25007509del GRCh38
NC_000023.10:g.25025626del , CM000685.1:g.25025626del GRCh37
NC_000023.9:g.24935547del NCBI36
NG_008281.1:g.13442del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1120-68del MANE Select ENSP00000368332.4:n.1120-68del
ENST00000379044.4:c.1120-68del ENSP00000368332.4:n.1120-68del
NM_139058.2:c.1120-68del NP_620689.1:n.1120-68del
NM_139058.3:c.1120-68del MANE Select NP_620689.1:n.1120-68del