Canonical Allele Identifier: CA2574913680

Gene: PHOX2A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72243872_72243873dup , CM000673.2:g.72243872_72243873dup	GRCh38
NC_000011.9:g.71954916_71954917dup , CM000673.1:g.71954916_71954917dup	GRCh37
NC_000011.8:g.71632564_71632565dup	NCBI36
NG_008169.1:g.5304_5305dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298231.5:c.132_133dup MANE Select	ENSP00000298231.5:p.Ala45GlyfsTer?
ENST00000544057.1:n.85+1707_85+1708dup
NM_005169.3:c.132_133dup	NP_005160.2:p.Ala45GlyfsTer?
NM_005169.4:c.132_133dup MANE Select	NP_005160.2:p.Ala45GlyfsTer?