Canonical Allele Identifier: CA2832556882
Gene: PHOX2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243697dup , CM000673.2:g.72243697dup GRCh38
NC_000011.9:g.71954741dup , CM000673.1:g.71954741dup GRCh37
NC_000011.8:g.71632389dup NCBI36
NG_008169.1:g.5484dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.217+95dup MANE Select ENSP00000298231.5:n.217+95dup
ENST00000544057.1:n.85+1887dup
NM_005169.3:c.217+95dup NP_005160.2:n.217+95dup
NM_005169.4:c.217+95dup MANE Select NP_005160.2:n.217+95dup
Search 100 bp 5'
Search 100 bp 3'