Canonical Allele Identifier: CA2614940421
Gene: PHOX2A HGNC NCBI

Linked Data

gnomAD v4: 11-72243802-GCGGGCTGGTGGTCGCGTAGGGCGCCAAGTGCGCAGTTGGAGGAGCCGAGCGCGGGGCAGGGCGGCCCTGCCGCGGGGAAAGCGGGCCGCAGGGGGCTGTATTGGAAGCCGC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243811_72243921del , CM000673.2:g.72243811_72243921del GRCh38
NC_000011.9:g.71954855_71954965del , CM000673.1:g.71954855_71954965del GRCh37
NC_000011.8:g.71632503_71632613del NCBI36
NG_008169.1:g.5264_5374del

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.92_202del MANE Select ENSP00000298231.5:p.Gly31_Pro67del
ENST00000544057.1:n.85+1667_85+1777del
NM_005169.3:c.92_202del NP_005160.2:p.Gly31_Pro67del
NM_005169.4:c.92_202del MANE Select NP_005160.2:p.Gly31_Pro67del
Search 100 bp 5'
Search 100 bp 3'