Canonical Allele Identifier: CA1139658465
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 6010
ClinVar RCV Id: RCV000006381 RCV003151706 RCV003415666
dbSNP Id: rs1733878065
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746000_41746037del , CM000666.2:g.41746000_41746037del GRCh38
NC_000004.11:g.41748017_41748054del , CM000666.1:g.41748017_41748054del GRCh37
NC_000004.10:g.41442774_41442811del NCBI36
NG_008243.1:g.7941_7978del , LRG_513:g.7941_7978del

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.722_759del MANE Select ENSP00000226382.2:p.Ala241GlyfsTer?
ENST00000226382.3:c.722_759del ENSP00000226382.2:p.Ala241GlyfsTer?
NM_003924.3:c.722_759del , LRG_513t1:c.722_759del NP_003915.2:p.Ala241GlyfsTer?
NM_003924.4:c.722_759del MANE Select NP_003915.2:p.Ala241GlyfsTer?
Search 100 bp 5'
Search 100 bp 3'