Canonical Allele Identifier: CA2580070996

Gene: PHOX2B

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41745973_41745974insGCTGCCGCCGCTGCCGCTGCCGCCGCCGCC , CM000666.2:g.41745973_41745974insGCTGCCGCCGCTGCCGCTGCCGCCGCCGCC	GRCh38
NC_000004.11:g.41747990_41747991insGCTGCCGCCGCTGCCGCTGCCGCCGCCGCC , CM000666.1:g.41747990_41747991insGCTGCCGCCGCTGCCGCTGCCGCCGCCGCC	GRCh37
NC_000004.10:g.41442747_41442748insGCTGCCGCCGCTGCCGCTGCCGCCGCCGCC	NCBI36
NG_008243.1:g.7997_7998insGGCGGCGGCGGCAGCGGCAGCGGCGGCAGC , LRG_513:g.7997_7998insGGCGGCGGCGGCAGCGGCAGCGGCGGCAGC

Transcript Alleles

HGVS	Amino-acid Change
NM_003924.4:c.778_779insGGCGGCGGCGGCAGCGGCAGCGGCGGCAGC MANE Select	NP_003915.2:p.Ala260delinsGlyArgArgArgGlnArgGlnArgArgGlnPro
ENST00000226382.4:c.778_779insGGCGGCGGCGGCAGCGGCAGCGGCGGCAGC MANE Select	ENSP00000226382.2:p.Ala260delinsGlyArgArgArgGlnArgGlnArgArgGl...
NM_003924.3:c.778_779insGGCGGCGGCGGCAGCGGCAGCGGCGGCAGC , LRG_513t1:c.778_779insGGCGGCGGCGGCAGCGGCAGCGGCGGCAGC	NP_003915.2:p.Ala260delinsGlyArgArgArgGlnArgGlnArgArgGlnPro
ENST00000226382.3:c.778_779insGGCGGCGGCGGCAGCGGCAGCGGCGGCAGC	ENSP00000226382.2:p.Ala260delinsGlyArgArgArgGlnArgGlnArgArgGl...