Canonical Allele Identifier: CA2614940236
Gene: PHOX2A HGNC NCBI

Linked Data

gnomAD v4: 11-72243773-CG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243777del , CM000673.2:g.72243777del GRCh38
NC_000011.9:g.71954821del , CM000673.1:g.71954821del GRCh37
NC_000011.8:g.71632469del NCBI36
NG_008169.1:g.5403del

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.217+14del MANE Select ENSP00000298231.5:n.217+14del
ENST00000544057.1:n.85+1806del
NM_005169.3:c.217+14del NP_005160.2:n.217+14del
NM_005169.4:c.217+14del MANE Select NP_005160.2:n.217+14del
Search 100 bp 5'
Search 100 bp 3'