Canonical Allele Identifier: CA2761184303

Gene: PHOX2B

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41746045_41746046insT , CM000666.2:g.41746045_41746046insT	GRCh38
NC_000004.11:g.41748062_41748063insT , CM000666.1:g.41748062_41748063insT	GRCh37
NC_000004.10:g.41442819_41442820insT	NCBI36
NG_008243.1:g.7925_7926insA , LRG_513:g.7925_7926insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.706_707insA MANE Select	ENSP00000226382.2:p.Pro236HisfsTer?
ENST00000226382.3:c.706_707insA	ENSP00000226382.2:p.Pro236HisfsTer?
ENST00000510424.2:n.527_528insA
NM_003924.3:c.706_707insA , LRG_513t1:c.706_707insA	NP_003915.2:p.Pro236HisfsTer?
NM_003924.4:c.706_707insA MANE Select	NP_003915.2:p.Pro236HisfsTer?