Canonical Allele Identifier: CA2614940738

Gene: PHOX2A

Linked Data

• gnomAD v4: 11-72243892-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72243892_72243893insT , CM000673.2:g.72243892_72243893insT	GRCh38
NC_000011.9:g.71954936_71954937insT , CM000673.1:g.71954936_71954937insT	GRCh37
NC_000011.8:g.71632584_71632585insT	NCBI36
NG_008169.1:g.5284_5285insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298231.5:c.112_113insA MANE Select	ENSP00000298231.5:p.Leu38HisfsTer?
ENST00000544057.1:n.85+1687_85+1688insA
NM_005169.3:c.112_113insA	NP_005160.2:p.Leu38HisfsTer?
NM_005169.4:c.112_113insA MANE Select	NP_005160.2:p.Leu38HisfsTer?