Canonical Allele Identifier: CA2614940393
Gene: PHOX2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243800del , CM000673.2:g.72243800del GRCh38
NC_000011.9:g.71954844del , CM000673.1:g.71954844del GRCh37
NC_000011.8:g.71632492del NCBI36
NG_008169.1:g.5379del

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.207del MANE Select ENSP00000298231.5:p.Tyr70ThrfsTer?
ENST00000544057.1:n.85+1782del
NM_005169.3:c.207del NP_005160.2:p.Tyr70ThrfsTer?
NM_005169.4:c.207del MANE Select NP_005160.2:p.Tyr70ThrfsTer?