Canonical Allele Identifier: CA2693353218
Gene: ARX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010430del , CM000685.2:g.25010430del GRCh38
NC_000023.10:g.25028547del , CM000685.1:g.25028547del GRCh37
NC_000023.9:g.24938468del NCBI36
NG_008281.1:g.10523del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1074-121del MANE Select ENSP00000368332.4:n.1074-121del
ENST00000379044.4:c.1074-121del ENSP00000368332.4:n.1074-121del
NM_139058.2:c.1074-121del NP_620689.1:n.1074-121del
NM_139058.3:c.1074-121del MANE Select NP_620689.1:n.1074-121del