Canonical Allele Identifier: CA1131756240
Gene: ARX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010174del , CM000685.2:g.25010174del GRCh38
NC_000023.10:g.25028291del , CM000685.1:g.25028291del GRCh37
NC_000023.9:g.24938212del NCBI36
NG_008281.1:g.10775del

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1119+86del MANE Select ENSP00000368332.4:n.1119+86del
ENST00000379044.4:c.1119+86del ENSP00000368332.4:n.1119+86del
NM_139058.2:c.1119+86del NP_620689.1:n.1119+86del
NM_139058.3:c.1119+86del MANE Select NP_620689.1:n.1119+86del