Canonical Allele Identifier: CA2614940739
Gene: PHOX2A HGNC NCBI

Linked Data

gnomAD v4: 11-72243892-A-AG
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243897dup , CM000673.2:g.72243897dup GRCh38
NC_000011.9:g.71954941dup , CM000673.1:g.71954941dup GRCh37
NC_000011.8:g.71632589dup NCBI36
NG_008169.1:g.5284dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.112dup MANE Select ENSP00000298231.5:p.Leu38ProfsTer?
ENST00000544057.1:n.85+1687dup
NM_005169.3:c.112dup NP_005160.2:p.Leu38ProfsTer?
NM_005169.4:c.112dup MANE Select NP_005160.2:p.Leu38ProfsTer?
Search 100 bp 5'
Search 100 bp 3'