Canonical Allele Identifier: CA913187411
Gene: ARX HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004889_25004890delinsA , CM000685.2:g.25004889_25004890delinsA GRCh38
NC_000023.10:g.25023006_25023007delinsA , CM000685.1:g.25023006_25023007delinsA GRCh37
NC_000023.9:g.24932927_24932928delinsA NCBI36
NG_008281.1:g.16059_16060delinsT

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1469_1470delinsT MANE Select ENSP00000368332.4:p.Pro490LeufsTer2
ENST00000636885.1:n.57_58delinsT
ENST00000379044.4:c.1469_1470delinsT ENSP00000368332.4:p.Pro490LeufsTer2
NM_139058.2:c.1469_1470delinsT NP_620689.1:p.Pro490LeufsTer2
NM_139058.3:c.1469_1470delinsT MANE Select NP_620689.1:p.Pro490LeufsTer2
Search 100 bp 5'
Search 100 bp 3'