Canonical Allele Identifier: CA2792651247

Gene: PHOX2A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72243857_72243858insTCGGGTGACCTAT , CM000673.2:g.72243857_72243858insTCGGGTGACCTAT	GRCh38
NC_000011.9:g.71954901_71954902insTCGGGTGACCTAT , CM000673.1:g.71954901_71954902insTCGGGTGACCTAT	GRCh37
NC_000011.8:g.71632549_71632550insTCGGGTGACCTAT	NCBI36
NG_008169.1:g.5319_5320insATAGGTCACCCGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298231.5:c.147_148insATAGGTCACCCGA MANE Select	ENSP00000298231.5:p.Pro50IlefsTer?
ENST00000544057.1:n.85+1722_85+1723insATAGGTCACCCGA
NM_005169.3:c.147_148insATAGGTCACCCGA	NP_005160.2:p.Pro50IlefsTer?
NM_005169.4:c.147_148insATAGGTCACCCGA MANE Select	NP_005160.2:p.Pro50IlefsTer?