Canonical Allele Identifier: CA2580070998
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 2500070
ClinVar RCV Id: RCV003224717
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745976_41745977insGCCGCCGCTGCCGCTGCCGCC , CM000666.2:g.41745976_41745977insGCCGCCGCTGCCGCTGCCGCC GRCh38
NC_000004.11:g.41747993_41747994insGCCGCCGCTGCCGCTGCCGCC , CM000666.1:g.41747993_41747994insGCCGCCGCTGCCGCTGCCGCC GRCh37
NC_000004.10:g.41442750_41442751insGCCGCCGCTGCCGCTGCCGCC NCBI36
NG_008243.1:g.7994_7995insGGCGGCAGCGGCAGCGGCGGC , LRG_513:g.7994_7995insGGCGGCAGCGGCAGCGGCGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.775_776insGGCGGCAGCGGCAGCGGCGGC MANE Select ENSP00000226382.2:p.Ala259delinsGlyArgGlnArgGlnArgArgPro
ENST00000226382.3:c.775_776insGGCGGCAGCGGCAGCGGCGGC ENSP00000226382.2:p.Ala259delinsGlyArgGlnArgGlnArgArgPro
NM_003924.3:c.775_776insGGCGGCAGCGGCAGCGGCGGC , LRG_513t1:c.775_776insGGCGGCAGCGGCAGCGGCGGC NP_003915.2:p.Ala259delinsGlyArgGlnArgGlnArgArgPro
NM_003924.4:c.775_776insGGCGGCAGCGGCAGCGGCGGC MANE Select NP_003915.2:p.Ala259delinsGlyArgGlnArgGlnArgArgPro
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