Canonical Allele Identifier: CA2578074976

Gene: PHOX2B

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41746012del , CM000666.2:g.41746012del	GRCh38
NC_000004.11:g.41748029del , CM000666.1:g.41748029del	GRCh37
NC_000004.10:g.41442786del	NCBI36
NG_008243.1:g.7960del , LRG_513:g.7960del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.741del MANE Select	ENSP00000226382.2:p.Ala248ArgfsTer?
ENST00000226382.3:c.741del	ENSP00000226382.2:p.Ala248ArgfsTer?
NM_003924.3:c.741del , LRG_513t1:c.741del	NP_003915.2:p.Ala248ArgfsTer?
NM_003924.4:c.741del MANE Select	NP_003915.2:p.Ala248ArgfsTer?