Canonical Allele Identifier: CA2761184237

Gene: PHOX2B

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41745972del , CM000666.2:g.41745972del	GRCh38
NC_000004.11:g.41747989del , CM000666.1:g.41747989del	GRCh37
NC_000004.10:g.41442746del	NCBI36
NG_008243.1:g.7999del , LRG_513:g.7999del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.780del MANE Select	ENSP00000226382.2:p.Gly261GlufsTer?
ENST00000226382.3:c.780del	ENSP00000226382.2:p.Gly261GlufsTer?
NM_003924.3:c.780del , LRG_513t1:c.780del	NP_003915.2:p.Gly261GlufsTer?
NM_003924.4:c.780del MANE Select	NP_003915.2:p.Gly261GlufsTer?