Canonical Allele Identifier: CA2614940804

Gene: PHOX2A

Linked Data

• gnomAD v4: 11-72243913-CCGGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72243915_72243918del , CM000673.2:g.72243915_72243918del	GRCh38
NC_000011.9:g.71954959_71954962del , CM000673.1:g.71954959_71954962del	GRCh37
NC_000011.8:g.71632607_71632610del	NCBI36
NG_008169.1:g.5260_5263del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298231.5:c.88_91del MANE Select	ENSP00000298231.5:p.Pro30AlafsTer?
ENST00000544057.1:n.85+1663_85+1666del
NM_005169.3:c.88_91del	NP_005160.2:p.Pro30AlafsTer?
NM_005169.4:c.88_91del MANE Select	NP_005160.2:p.Pro30AlafsTer?