Canonical Allele Identifier: CA1139658464
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 988333
ClinVar RCV Id: RCV001269622
dbSNP Id: rs1733874227
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745983_41745984insCGCCGCTGCCGCCGC , CM000666.2:g.41745983_41745984insCGCCGCTGCCGCCGC GRCh38
NC_000004.11:g.41748000_41748001insCGCCGCTGCCGCCGC , CM000666.1:g.41748000_41748001insCGCCGCTGCCGCCGC GRCh37
NC_000004.10:g.41442757_41442758insCGCCGCTGCCGCCGC NCBI36
NG_008243.1:g.7998_7999insGGCGGCGGCGGCAGC , LRG_513:g.7998_7999insGGCGGCGGCGGCAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.779_780insGGCGGCGGCGGCAGC MANE Select ENSP00000226382.2:p.Ala260_Gly261insAlaAlaAlaAlaAla
ENST00000226382.3:c.779_780insGGCGGCGGCGGCAGC ENSP00000226382.2:p.Ala260_Gly261insAlaAlaAlaAlaAla
NM_003924.3:c.779_780insGGCGGCGGCGGCAGC , LRG_513t1:c.779_780insGGCGGCGGCGGCAGC NP_003915.2:p.Ala260_Gly261insAlaAlaAlaAlaAla
NM_003924.4:c.779_780insGGCGGCGGCGGCAGC MANE Select NP_003915.2:p.Ala260_Gly261insAlaAlaAlaAlaAla
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