Canonical Allele Identifier: CA2697556778

Gene: POU1F1

Linked Data

• ClinVar Variation Id: 2767806
• ClinVar RCV Id: RCV003574079

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87262179_87262180del , CM000665.2:g.87262179_87262180del	GRCh38
NC_000003.11:g.87311329_87311330del , CM000665.1:g.87311329_87311330del	GRCh37
NC_000003.10:g.87394019_87394020del	NCBI36
NG_008225.2:g.19408_19409del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344265.8:c.573_574del	ENSP00000342931.3:p.Phe191LeufsTer9
ENST00000350375.7:c.495_496del MANE Select	ENSP00000263781.2:p.Phe165LeufsTer9
ENST00000344265.7:c.573_574del	ENSP00000342931.3:p.Phe191LeufsTer9
ENST00000350375.6:c.495_496del	ENSP00000263781.2:p.Phe165LeufsTer9
ENST00000560656.1:c.440-2076_440-2075del	ENSP00000452610.1:n.440-2076_440-2075del
ENST00000561167.5:c.270_271del	ENSP00000454072.1:p.Phe90LeufsTer9
NM_000306.3:c.495_496del	NP_000297.1:p.Phe165LeufsTer9
NM_001122757.2:c.573_574del	NP_001116229.1:p.Phe191LeufsTer9
NM_000306.4:c.495_496del MANE Select	NP_000297.1:p.Phe165LeufsTer9
NM_001122757.3:c.573_574del	NP_001116229.1:p.Phe191LeufsTer9