Canonical Allele Identifier: CA680005047

Gene: PHOX2A

Linked Data

• dbSNP Id: rs1159182596
• MyVariant Identifiers: chr11:g.71954677_71954678insGA (hg19) ; chr11:g.72243633_72243634insGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72243636_72243637dup , CM000673.2:g.72243636_72243637dup	GRCh38
NC_000011.9:g.71954680_71954681dup , CM000673.1:g.71954680_71954681dup	GRCh37
NC_000011.8:g.71632328_71632329dup	NCBI36
NG_008169.1:g.5542_5543dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298231.5:c.217+153_217+154dup MANE Select	ENSP00000298231.5:n.217+153_217+154dup
ENST00000544057.1:n.85+1945_85+1946dup
NM_005169.3:c.217+153_217+154dup	NP_005160.2:n.217+153_217+154dup
NM_005169.4:c.217+153_217+154dup MANE Select	NP_005160.2:n.217+153_217+154dup