Canonical Allele Identifier: CA2563881402
Gene: ARX HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013174_25013176del , CM000685.2:g.25013174_25013176del GRCh38
NC_000023.10:g.25031291_25031293del , CM000685.1:g.25031291_25031293del GRCh37
NC_000023.9:g.24941212_24941214del NCBI36
NG_008281.1:g.7773_7775del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.819_821del MANE Select ENSP00000368332.4:p.Val274del
ENST00000379044.4:c.819_821del ENSP00000368332.4:p.Val274del
NM_139058.2:c.819_821del NP_620689.1:p.Val274del
NM_139058.3:c.819_821del MANE Select NP_620689.1:p.Val274del
Search 100 bp 5'
Search 100 bp 3'