Canonical Allele Identifier: CA2901436

Gene: PHOX2B

Linked Data

• dbSNP Id: rs746486633
• ExAC: 4:41748004 CGCTGCCGCCGCCGCCGCT / C
• MyVariant Identifiers: chr4:g.41748005_41748022del (hg19) ; chr4:g.41748007_41748043delinsCGCGGCCGCCGCCGCTGCT (hg19) ; chr4:g.41745988_41746005del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41745990_41746007del , CM000666.2:g.41745990_41746007del	GRCh38
NC_000004.11:g.41748007_41748024del , CM000666.1:g.41748007_41748024del	GRCh37
NC_000004.10:g.41442764_41442781del	NCBI36
NG_008243.1:g.7966_7983del , LRG_513:g.7966_7983del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.747_764del MANE Select	ENSP00000226382.2:p.Ala250_Ala255del
ENST00000226382.3:c.747_764del	ENSP00000226382.2:p.Ala250_Ala255del
NM_003924.3:c.747_764del , LRG_513t1:c.747_764del	NP_003915.2:p.Ala250_Ala255del
NM_003924.4:c.747_764del MANE Select	NP_003915.2:p.Ala250_Ala255del