Canonical Allele Identifier: CA2586973812

Gene: PHOX2B

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41746107_41746108del , CM000666.2:g.41746107_41746108del	GRCh38
NC_000004.11:g.41748124_41748125del , CM000666.1:g.41748124_41748125del	GRCh37
NC_000004.10:g.41442881_41442882del	NCBI36
NG_008243.1:g.7864_7865del , LRG_513:g.7864_7865del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.645_646del MANE Select	ENSP00000226382.2:p.Gly216ArgfsTer?
ENST00000226382.3:c.645_646del	ENSP00000226382.2:p.Gly216ArgfsTer?
ENST00000510424.2:n.466_467del
NM_003924.3:c.645_646del , LRG_513t1:c.645_646del	NP_003915.2:p.Gly216ArgfsTer?
NM_003924.4:c.645_646del MANE Select	NP_003915.2:p.Gly216ArgfsTer?