Canonical Allele Identifier: CA2792651236

Gene: PHOX2A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72243657_72243721del , CM000673.2:g.72243657_72243721del	GRCh38
NC_000011.9:g.71954701_71954765del , CM000673.1:g.71954701_71954765del	GRCh37
NC_000011.8:g.71632349_71632413del	NCBI36
NG_008169.1:g.5458_5522del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298231.5:c.217+69_217+133del MANE Select	ENSP00000298231.5:n.217+69_217+133del
ENST00000544057.1:n.85+1861_85+1925del
NM_005169.3:c.217+69_217+133del	NP_005160.2:n.217+69_217+133del
NM_005169.4:c.217+69_217+133del MANE Select	NP_005160.2:n.217+69_217+133del