Canonical Allele Identifier: CA2580616089
Gene: PHOX2B HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745989_41745990insGGCCGCCGCCGCCGCTGCCGC , CM000666.2:g.41745989_41745990insGGCCGCCGCCGCCGCTGCCGC GRCh38
NC_000004.11:g.41748006_41748007insGGCCGCCGCCGCCGCTGCCGC , CM000666.1:g.41748006_41748007insGGCCGCCGCCGCCGCTGCCGC GRCh37
NC_000004.10:g.41442763_41442764insGGCCGCCGCCGCCGCTGCCGC NCBI36
NG_008243.1:g.7995_7996insGGCGGCCGCGGCAGCGGCGGC , LRG_513:g.7995_7996insGGCGGCCGCGGCAGCGGCGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.776_777insGGCGGCCGCGGCAGCGGCGGC MANE Select ENSP00000226382.2:p.Ala259_Ala260insAlaAlaAlaAlaAlaAlaAla
ENST00000226382.3:c.776_777insGGCGGCCGCGGCAGCGGCGGC ENSP00000226382.2:p.Ala259_Ala260insAlaAlaAlaAlaAlaAlaAla
NM_003924.3:c.776_777insGGCGGCCGCGGCAGCGGCGGC , LRG_513t1:c.776_777insGGCGGCCGCGGCAGCGGCGGC NP_003915.2:p.Ala259_Ala260insAlaAlaAlaAlaAlaAlaAla
NM_003924.4:c.776_777insGGCGGCCGCGGCAGCGGCGGC MANE Select NP_003915.2:p.Ala259_Ala260insAlaAlaAlaAlaAlaAlaAla
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