Canonical Allele Identifier: CA2614940528
Gene: PHOX2A HGNC NCBI

Linked Data

gnomAD v4: 11-72243829-A-AGCT
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243830_72243831insCTG , CM000673.2:g.72243830_72243831insCTG GRCh38
NC_000011.9:g.71954874_71954875insCTG , CM000673.1:g.71954874_71954875insCTG GRCh37
NC_000011.8:g.71632522_71632523insCTG NCBI36
NG_008169.1:g.5347_5348insAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.175_176insAGC MANE Select ENSP00000298231.5:p.Ala58_Leu59insGln
ENST00000544057.1:n.85+1750_85+1751insAGC
NM_005169.3:c.175_176insAGC NP_005160.2:p.Ala58_Leu59insGln
NM_005169.4:c.175_176insAGC MANE Select NP_005160.2:p.Ala58_Leu59insGln
Search 100 bp 5'
Search 100 bp 3'