Canonical Allele Identifier: CA2839182178
Gene: ARX HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004799dup , CM000685.2:g.25004799dup GRCh38
NC_000023.10:g.25022916dup , CM000685.1:g.25022916dup GRCh37
NC_000023.9:g.24932837dup NCBI36
NG_008281.1:g.16151dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1561dup MANE Select ENSP00000368332.4:p.Ala521GlyfsTer11
ENST00000379044.4:c.1561dup ENSP00000368332.4:p.Ala521GlyfsTer11
NM_139058.2:c.1561dup NP_620689.1:p.Ala521GlyfsTer11
NM_139058.3:c.1561dup MANE Select NP_620689.1:p.Ala521GlyfsTer11
Search 100 bp 5'
Search 100 bp 3'