Canonical Allele Identifier: CA551141163
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 467745
ClinVar RCV Id: RCV003633513 RCV003139836
dbSNP Id: rs17886470
gnomAD v2: 4-41747992-T-TGCC
gnomAD v3: 4-41745975-T-TGCC
gnomAD v4: 4-41745975-T-TGCC
MyVariant Identifiers: chr4:g.41747993_41747995dup (hg19) chr4:g.41748001_41748031delinsCGCTGCCGCTGCCGCCGCCGCCGCTGCCGCGGCC (hg19) chr4:g.41747992_41747993insGCC (hg19) chr4:g.41745976_41745978dup (hg38) chr4:g.41745984_41746014delinsCGCTGCCGCTGCCGCCGCCGCCGCTGCCGCGGCC (hg38) chr4:g.41745975_41745976insGCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745981_41745983dup , CM000666.2:g.41745981_41745983dup GRCh38
NC_000004.11:g.41747998_41748000dup , CM000666.1:g.41747998_41748000dup GRCh37
NC_000004.10:g.41442755_41442757dup NCBI36
NG_008243.1:g.7993_7995dup , LRG_513:g.7993_7995dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.774_776dup MANE Select ENSP00000226382.2:p.Ala259_Ala260insAla
ENST00000226382.3:c.774_776dup ENSP00000226382.2:p.Ala259_Ala260insAla
NM_003924.3:c.774_776dup , LRG_513t1:c.774_776dup NP_003915.2:p.Ala259_Ala260insAla
NM_003924.4:c.774_776dup MANE Select NP_003915.2:p.Ala259_Ala260insAla
Search 100 bp 5'
Search 100 bp 3'