Canonical Allele Identifier: CA2580070995
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1758615
ClinVar RCV Id: RCV002380411
gnomAD v4: 4-41745945-AGGGCCCCCAGCCGCAGCCAGGCCTCCAGCTGCCGCCGCTGCCGCTGCCGCCGCCGCCGCTGCCGCGGCC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745947_41746015del , CM000666.2:g.41745947_41746015del GRCh38
NC_000004.11:g.41747964_41748032del , CM000666.1:g.41747964_41748032del GRCh37
NC_000004.10:g.41442721_41442789del NCBI36
NG_008243.1:g.7957_8025del , LRG_513:g.7957_8025del

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.738_806del MANE Select ENSP00000226382.2:p.Ala247_Pro269del
ENST00000226382.3:c.738_806del ENSP00000226382.2:p.Ala247_Pro269del
NM_003924.3:c.738_806del , LRG_513t1:c.738_806del NP_003915.2:p.Ala247_Pro269del
NM_003924.4:c.738_806del MANE Select NP_003915.2:p.Ala247_Pro269del
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