Canonical Allele Identifier: CA2586973824

Gene: PHOX2B

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41746272del , CM000666.2:g.41746272del	GRCh38
NC_000004.11:g.41748289del , CM000666.1:g.41748289del	GRCh37
NC_000004.10:g.41443046del	NCBI36
NG_008243.1:g.7700del , LRG_513:g.7700del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.481del MANE Select	ENSP00000226382.2:p.Ala161GlnfsTer?
ENST00000226382.3:c.481del	ENSP00000226382.2:p.Ala161GlnfsTer?
ENST00000510424.2:n.302del
NM_003924.3:c.481del , LRG_513t1:c.481del	NP_003915.2:p.Ala161GlnfsTer?
NM_003924.4:c.481del MANE Select	NP_003915.2:p.Ala161GlnfsTer?