Canonical Allele Identifier: CA2420207027
Gene: ARX HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007186_25007187delinsGC , CM000685.2:g.25007186_25007187delinsGC GRCh38
NC_000023.10:g.25025303_25025304delinsGC , CM000685.1:g.25025303_25025304delinsGC GRCh37
NC_000023.9:g.24935224_24935225delinsGC NCBI36
NG_008281.1:g.13762_13763delinsGC

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1372_1373delinsGC MANE Select ENSP00000368332.4:p.Ala458=
ENST00000379044.4:c.1372_1373delinsGC ENSP00000368332.4:p.Ala458=
NM_139058.2:c.1372_1373delinsGC NP_620689.1:p.Ala458=
NM_139058.3:c.1372_1373delinsGC MANE Select NP_620689.1:p.Ala458=
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