Canonical Allele Identifier: CA2792651234

Gene: PHOX2A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72243651_72243748del , CM000673.2:g.72243651_72243748del	GRCh38
NC_000011.9:g.71954695_71954792del , CM000673.1:g.71954695_71954792del	GRCh37
NC_000011.8:g.71632343_71632440del	NCBI36
NG_008169.1:g.5435_5532del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298231.5:c.217+46_217+143del MANE Select	ENSP00000298231.5:n.217+46_217+143del
ENST00000544057.1:n.85+1838_85+1935del
NM_005169.3:c.217+46_217+143del	NP_005160.2:n.217+46_217+143del
NM_005169.4:c.217+46_217+143del MANE Select	NP_005160.2:n.217+46_217+143del