Canonical Allele Identifier: CA2792651364
Gene: PHOX2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243924del , CM000673.2:g.72243924del GRCh38
NC_000011.9:g.71954968del , CM000673.1:g.71954968del GRCh37
NC_000011.8:g.71632616del NCBI36
NG_008169.1:g.5253del

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.81del MANE Select ENSP00000298231.5:p.Cys27Ter
ENST00000544057.1:n.85+1656del
NM_005169.3:c.81del NP_005160.2:p.Cys27Ter
NM_005169.4:c.81del MANE Select NP_005160.2:p.Cys27Ter
Search 100 bp 5'
Search 100 bp 3'