Canonical Allele Identifier: CA2497074305
Gene: PHOX2B HGNC NCBI

Linked Data

dbSNP Id: rs1733880151
gnomAD v4: 4-41746002-CGCT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746005_41746007del , CM000666.2:g.41746005_41746007del GRCh38
NC_000004.11:g.41748022_41748024del , CM000666.1:g.41748022_41748024del GRCh37
NC_000004.10:g.41442779_41442781del NCBI36
NG_008243.1:g.7966_7968del , LRG_513:g.7966_7968del

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.747_749del MANE Select ENSP00000226382.2:p.Ala250del
ENST00000226382.3:c.747_749del ENSP00000226382.2:p.Ala250del
NM_003924.3:c.747_749del , LRG_513t1:c.747_749del NP_003915.2:p.Ala250del
NM_003924.4:c.747_749del MANE Select NP_003915.2:p.Ala250del
Search 100 bp 5'
Search 100 bp 3'