Canonical Allele Identifier: CA2761184242

Gene: PHOX2B

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41745974_41745978del , CM000666.2:g.41745974_41745978del	GRCh38
NC_000004.11:g.41747991_41747995del , CM000666.1:g.41747991_41747995del	GRCh37
NC_000004.10:g.41442748_41442752del	NCBI36
NG_008243.1:g.7993_7997del , LRG_513:g.7993_7997del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.774_778del MANE Select	ENSP00000226382.2:p.Ala259TrpfsTer?
ENST00000226382.3:c.774_778del	ENSP00000226382.2:p.Ala259TrpfsTer?
NM_003924.3:c.774_778del , LRG_513t1:c.774_778del	NP_003915.2:p.Ala259TrpfsTer?
NM_003924.4:c.774_778del MANE Select	NP_003915.2:p.Ala259TrpfsTer?