Canonical Allele Identifier: CA2599015652
Gene: PHOX2A HGNC NCBI

Linked Data

gnomAD v3: 11-72243771-GCC-G
gnomAD v4: 11-72243771-GCC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72243772_72243773del , CM000673.2:g.72243772_72243773del GRCh38
NC_000011.9:g.71954816_71954817del , CM000673.1:g.71954816_71954817del GRCh37
NC_000011.8:g.71632464_71632465del NCBI36
NG_008169.1:g.5404_5405del

Transcript Alleles

HGVS Amino-acid Change
ENST00000298231.5:c.217+15_217+16del MANE Select ENSP00000298231.5:n.217+15_217+16del
ENST00000544057.1:n.85+1807_85+1808del
NM_005169.3:c.217+15_217+16del NP_005160.2:n.217+15_217+16del
NM_005169.4:c.217+15_217+16del MANE Select NP_005160.2:n.217+15_217+16del
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