Canonical Allele Identifier: CA2420205982
Gene: ARX HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004893_25004894delinsGC , CM000685.2:g.25004893_25004894delinsGC GRCh38
NC_000023.10:g.25023010_25023011delinsGC , CM000685.1:g.25023010_25023011delinsGC GRCh37
NC_000023.9:g.24932931_24932932delinsGC NCBI36
NG_008281.1:g.16055_16056delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1465_1466delinsGC MANE Select ENSP00000368332.4:p.Ala489=
ENST00000636885.1:n.53_54delinsGC
ENST00000379044.4:c.1465_1466delinsGC ENSP00000368332.4:p.Ala489=
NM_139058.2:c.1465_1466delinsGC NP_620689.1:p.Ala489=
NM_139058.3:c.1465_1466delinsGC MANE Select NP_620689.1:p.Ala489=
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Search 100 bp 3'