Canonical Allele Identifier: CA2739279977

Gene: POU1F1

Linked Data

• ClinVar Variation Id: 2790971
• ClinVar RCV Id: RCV003672193

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87259986del , CM000665.2:g.87259986del	GRCh38
NC_000003.11:g.87309136del , CM000665.1:g.87309136del	GRCh37
NC_000003.10:g.87391826del	NCBI36
NG_008225.2:g.21605del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344265.8:c.865del	ENSP00000342931.3:p.Cys289AlafsTer10
ENST00000350375.7:c.787del MANE Select	ENSP00000263781.2:p.Cys263AlafsTer10
ENST00000344265.7:c.865del	ENSP00000342931.3:p.Cys289AlafsTer10
ENST00000350375.6:c.787del	ENSP00000263781.2:p.Cys263AlafsTer10
ENST00000560656.1:c.561del	ENSP00000452610.1:n.561del
ENST00000561167.5:c.562del	ENSP00000454072.1:p.Cys188AlafsTer10
NM_000306.3:c.787del	NP_000297.1:p.Cys263AlafsTer10
NM_001122757.2:c.865del	NP_001116229.1:p.Cys289AlafsTer10
NM_000306.4:c.787del MANE Select	NP_000297.1:p.Cys263AlafsTer10
NM_001122757.3:c.865del	NP_001116229.1:p.Cys289AlafsTer10