Canonical Allele Identifier: CA2614940530
Gene: PHOX2A HGNC NCBI

Linked Data

gnomAD v4: 11-72243831-TGCGCA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243833_72243837del , CM000673.2:g.72243833_72243837del GRCh38
NC_000011.9:g.71954877_71954881del , CM000673.1:g.71954877_71954881del GRCh37
NC_000011.8:g.71632525_71632529del NCBI36
NG_008169.1:g.5341_5345del

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.169_173del MANE Select ENSP00000298231.5:p.Cys57ThrfsTer?
ENST00000544057.1:n.85+1744_85+1748del
NM_005169.3:c.169_173del NP_005160.2:p.Cys57ThrfsTer?
NM_005169.4:c.169_173del MANE Select NP_005160.2:p.Cys57ThrfsTer?
Search 100 bp 5'
Search 100 bp 3'