Canonical Allele Identifier: CA2420208958
Gene: ARX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25012752_25012753delinsGA , CM000685.2:g.25012752_25012753delinsGA GRCh38
NC_000023.10:g.25030869_25030870delinsGA , CM000685.1:g.25030869_25030870delinsGA GRCh37
NC_000023.9:g.24940790_24940791delinsGA NCBI36
NG_008281.1:g.8196_8197delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1073+169_1073+170delinsTC MANE Select ENSP00000368332.4:n.1073+169_1073+170delinsTC
ENST00000379044.4:c.1073+169_1073+170delinsTC ENSP00000368332.4:n.1073+169_1073+170delinsTC
NM_139058.2:c.1073+169_1073+170delinsTC NP_620689.1:n.1073+169_1073+170delinsTC
NM_139058.3:c.1073+169_1073+170delinsTC MANE Select NP_620689.1:n.1073+169_1073+170delinsTC