Canonical Allele Identifier: CA2693352256
Gene: ARX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004465del , CM000685.2:g.25004465del GRCh38
NC_000023.10:g.25022582del , CM000685.1:g.25022582del GRCh37
NC_000023.9:g.24932503del NCBI36
NG_008281.1:g.16487del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.*208del MANE Select ENSP00000368332.4:n.*208del
ENST00000379044.4:c.*208del ENSP00000368332.4:n.*208del
NM_139058.2:c.*208del NP_620689.1:n.*208del
NM_139058.3:c.*208del MANE Select NP_620689.1:n.*208del