Canonical Allele Identifier: CA2614940757
Gene: PHOX2A HGNC NCBI

Linked Data

gnomAD v4: 11-72243896-GGCT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243898_72243900del , CM000673.2:g.72243898_72243900del GRCh38
NC_000011.9:g.71954942_71954944del , CM000673.1:g.71954942_71954944del GRCh37
NC_000011.8:g.71632590_71632592del NCBI36
NG_008169.1:g.5278_5280del

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.106_108del MANE Select ENSP00000298231.5:p.Ser36del
ENST00000544057.1:n.85+1681_85+1683del
NM_005169.3:c.106_108del NP_005160.2:p.Ser36del
NM_005169.4:c.106_108del MANE Select NP_005160.2:p.Ser36del
Search 100 bp 5'
Search 100 bp 3'