Canonical Allele Identifier: CA2693353289
Gene: ARX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25012846del , CM000685.2:g.25012846del GRCh38
NC_000023.10:g.25030963del , CM000685.1:g.25030963del GRCh37
NC_000023.9:g.24940884del NCBI36
NG_008281.1:g.8106del

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1073+79del MANE Select ENSP00000368332.4:n.1073+79del
ENST00000379044.4:c.1073+79del ENSP00000368332.4:n.1073+79del
NM_139058.2:c.1073+79del NP_620689.1:n.1073+79del
NM_139058.3:c.1073+79del MANE Select NP_620689.1:n.1073+79del