Canonical Allele Identifier: CA2839993514
Gene: ARX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004943_25004944del , CM000685.2:g.25004943_25004944del GRCh38
NC_000023.10:g.25023060_25023061del , CM000685.1:g.25023060_25023061del GRCh37
NC_000023.9:g.24932981_24932982del NCBI36
NG_008281.1:g.16006_16007del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1449-33_1449-32del MANE Select ENSP00000368332.4:n.1449-33_1449-32del
ENST00000636885.1:n.37-33_37-32del
ENST00000379044.4:c.1449-33_1449-32del ENSP00000368332.4:n.1449-33_1449-32del
NM_139058.2:c.1449-33_1449-32del NP_620689.1:n.1449-33_1449-32del
NM_139058.3:c.1449-33_1449-32del MANE Select NP_620689.1:n.1449-33_1449-32del