Canonical Allele Identifier: CA2614940694
Gene: PHOX2A HGNC NCBI

Linked Data

gnomAD v4: 11-72243875-C-CG
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243879dup , CM000673.2:g.72243879dup GRCh38
NC_000011.9:g.71954923dup , CM000673.1:g.71954923dup GRCh37
NC_000011.8:g.71632571dup NCBI36
NG_008169.1:g.5301dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.129dup MANE Select ENSP00000298231.5:p.Ala44ArgfsTer?
ENST00000544057.1:n.85+1704dup
NM_005169.3:c.129dup NP_005160.2:p.Ala44ArgfsTer?
NM_005169.4:c.129dup MANE Select NP_005160.2:p.Ala44ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'