Canonical Allele Identifier: CA2586973803

Gene: PHOX2B

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41746045_41746046del , CM000666.2:g.41746045_41746046del	GRCh38
NC_000004.11:g.41748062_41748063del , CM000666.1:g.41748062_41748063del	GRCh37
NC_000004.10:g.41442819_41442820del	NCBI36
NG_008243.1:g.7926_7927del , LRG_513:g.7926_7927del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.707_708del MANE Select	ENSP00000226382.2:p.Pro236ArgfsTer?
ENST00000226382.3:c.707_708del	ENSP00000226382.2:p.Pro236ArgfsTer?
ENST00000510424.2:n.528_529del
NM_003924.3:c.707_708del , LRG_513t1:c.707_708del	NP_003915.2:p.Pro236ArgfsTer?
NM_003924.4:c.707_708del MANE Select	NP_003915.2:p.Pro236ArgfsTer?