Canonical Allele Identifier: CA2901443

Gene: PHOX2B

Linked Data

• dbSNP Id: rs746332313
• ExAC: 4:41748013 CGCCGCCGCTGCCGCGGCCGCCGCCGCT / C
• gnomAD v2: 4-41748013-CGCCGCCGCTGCCGCGGCCGCCGCCGCT-C
• gnomAD v4: 4-41745996-CGCCGCCGCTGCCGCGGCCGCCGCCGCT-C
• MyVariant Identifiers: chr4:g.41748014_41748040del (hg19) ; chr4:g.41745997_41746023del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41745999_41746025del , CM000666.2:g.41745999_41746025del	GRCh38
NC_000004.11:g.41748016_41748042del , CM000666.1:g.41748016_41748042del	GRCh37
NC_000004.10:g.41442773_41442799del	NCBI36
NG_008243.1:g.7948_7974del , LRG_513:g.7948_7974del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.729_755del MANE Select	ENSP00000226382.2:p.Ala244_Ala252del
ENST00000226382.3:c.729_755del	ENSP00000226382.2:p.Ala244_Ala252del
NM_003924.3:c.729_755del , LRG_513t1:c.729_755del	NP_003915.2:p.Ala244_Ala252del
NM_003924.4:c.729_755del MANE Select	NP_003915.2:p.Ala244_Ala252del