Canonical Allele Identifier: CA2579637368
Gene: ARX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007499dup , CM000685.2:g.25007499dup GRCh38
NC_000023.10:g.25025616dup , CM000685.1:g.25025616dup GRCh37
NC_000023.9:g.24935537dup NCBI36
NG_008281.1:g.13453dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1120-57dup MANE Select ENSP00000368332.4:n.1120-57dup
ENST00000379044.4:c.1120-57dup ENSP00000368332.4:n.1120-57dup
NM_139058.2:c.1120-57dup NP_620689.1:n.1120-57dup
NM_139058.3:c.1120-57dup MANE Select NP_620689.1:n.1120-57dup