Canonical Allele Identifier: CA2614940401

Gene: PHOX2A

Linked Data

• gnomAD v4: 11-72243799-G-GGC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72243803_72243804dup , CM000673.2:g.72243803_72243804dup	GRCh38
NC_000011.9:g.71954847_71954848dup , CM000673.1:g.71954847_71954848dup	GRCh37
NC_000011.8:g.71632495_71632496dup	NCBI36
NG_008169.1:g.5376_5377dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298231.5:c.204_205dup MANE Select	ENSP00000298231.5:p.Pro69ArgfsTer?
ENST00000544057.1:n.85+1779_85+1780dup
NM_005169.3:c.204_205dup	NP_005160.2:p.Pro69ArgfsTer?
NM_005169.4:c.204_205dup MANE Select	NP_005160.2:p.Pro69ArgfsTer?