Canonical Allele Identifier: CA2792651240

Gene: PHOX2A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72243709dup , CM000673.2:g.72243709dup	GRCh38
NC_000011.9:g.71954753dup , CM000673.1:g.71954753dup	GRCh37
NC_000011.8:g.71632401dup	NCBI36
NG_008169.1:g.5472dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000298231.5:c.217+83dup MANE Select	ENSP00000298231.5:n.217+83dup
ENST00000544057.1:n.85+1875dup
NM_005169.3:c.217+83dup	NP_005160.2:n.217+83dup
NM_005169.4:c.217+83dup MANE Select	NP_005160.2:n.217+83dup