Canonical Allele Identifier: CA2820100836
Gene: ARX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013354dup , CM000685.2:g.25013354dup GRCh38
NC_000023.10:g.25031471dup , CM000685.1:g.25031471dup GRCh37
NC_000023.9:g.24941392dup NCBI36
NG_008281.1:g.7598dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.644dup MANE Select ENSP00000368332.4:p.Ala216GlyfsTer22
ENST00000379044.4:c.644dup ENSP00000368332.4:p.Ala216GlyfsTer22
NM_139058.2:c.644dup NP_620689.1:p.Ala216GlyfsTer22
NM_139058.3:c.644dup MANE Select NP_620689.1:p.Ala216GlyfsTer22