Canonical Allele Identifier: CA2000234283

Gene: POU2AF1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.111352350_111352352delinsCTA , CM000673.2:g.111352350_111352352delinsCTA	GRCh38
NC_000011.9:g.111223075_111223077delinsCTA , CM000673.1:g.111223075_111223077delinsCTA	GRCh37
NC_000011.8:g.110728285_110728287delinsCTA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393067.8:c.*1909_*1911delinsTAG MANE Select	ENSP00000376786.3:n.*1909_*1911delinsTAG
ENST00000393067.7:c.*1909_*1911delinsTAG	ENSP00000376786.3:n.*1909_*1911delinsTAG
NM_006235.2:c.*1909_*1911delinsTAG	NP_006226.2:n.*1909_*1911delinsTAG
XM_005271593.1:c.*1909_*1911delinsTAG	XP_005271650.1:n.*1909_*1911delinsTAG
XM_005271594.3:c.*1909_*1911delinsTAG	XP_005271651.1:n.*1909_*1911delinsTAG
XM_006718859.1:c.*1909_*1911delinsTAG	XP_006718922.1:n.*1909_*1911delinsTAG
XM_005271593.2:c.*1909_*1911delinsTAG	XP_005271650.1:n.*1909_*1911delinsTAG
XM_006718860.4:c.*4064_*4066delinsTAG	XP_006718923.1:n.*4064_*4066delinsTAG
XM_017017932.1:c.*4064_*4066delinsTAG	XP_016873421.1:n.*4064_*4066delinsTAG
NM_006235.3:c.*1909_*1911delinsTAG MANE Select	NP_006226.2:n.*1909_*1911delinsTAG