Canonical Allele Identifier: CA2420209022
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs1353151910

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25012875del , CM000685.2:g.25012875del GRCh38
NC_000023.10:g.25030992del , CM000685.1:g.25030992del GRCh37
NC_000023.9:g.24940913del NCBI36
NG_008281.1:g.8076del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1073+49del MANE Select ENSP00000368332.4:n.1073+49del
ENST00000379044.4:c.1073+49del ENSP00000368332.4:n.1073+49del
NM_139058.2:c.1073+49del NP_620689.1:n.1073+49del
NM_139058.3:c.1073+49del MANE Select NP_620689.1:n.1073+49del