Canonical Allele Identifier: CA2614940493
Gene: PHOX2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243823del , CM000673.2:g.72243823del GRCh38
NC_000011.9:g.71954867del , CM000673.1:g.71954867del GRCh37
NC_000011.8:g.71632515del NCBI36
NG_008169.1:g.5356del

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.184del MANE Select ENSP00000298231.5:p.Leu62TyrfsTer?
ENST00000544057.1:n.85+1759del
NM_005169.3:c.184del NP_005160.2:p.Leu62TyrfsTer?
NM_005169.4:c.184del MANE Select NP_005160.2:p.Leu62TyrfsTer?