Canonical Allele Identifier: CA2573137672
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1397050
ClinVar RCV Id: RCV001903307
dbSNP Id: rs1351806501
gnomAD v4: 4-41746257-G-GGCCGCTGCGGCT
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746267_41746278dup , CM000666.2:g.41746267_41746278dup GRCh38
NC_000004.11:g.41748284_41748295dup , CM000666.1:g.41748284_41748295dup GRCh37
NC_000004.10:g.41443041_41443052dup NCBI36
NG_008243.1:g.7702_7713dup , LRG_513:g.7702_7713dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.483_494dup MANE Select ENSP00000226382.2:p.Ala165_Ala166insAlaAlaAlaAla
ENST00000226382.3:c.483_494dup ENSP00000226382.2:p.Ala165_Ala166insAlaAlaAlaAla
ENST00000510424.2:n.304_315dup
NM_003924.3:c.483_494dup , LRG_513t1:c.483_494dup NP_003915.2:p.Ala165_Ala166insAlaAlaAlaAla
NM_003924.4:c.483_494dup MANE Select NP_003915.2:p.Ala165_Ala166insAlaAlaAlaAla
Search 100 bp 5'
Search 100 bp 3'