Canonical Allele Identifier: CA2501098

Gene: POU1F1

Linked Data

• ClinVar Variation Id: 2886006
• ClinVar RCV Id: RCV003719711
• dbSNP Id: rs376889886
• ExAC: 3:87309259 CG / C
• gnomAD v2: 3-87309259-CG-C
• gnomAD v3: 3-87260109-CG-C
• gnomAD v4: 3-87260109-CG-C
• MyVariant Identifiers: chr3:g.87309260del (hg19) ; chr3:g.87260111del (hg38) ; chr3:g.87260110del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.87260115del , CM000665.2:g.87260115del	GRCh38
NC_000003.11:g.87309265del , CM000665.1:g.87309265del	GRCh37
NC_000003.10:g.87391955del	NCBI36
NG_008225.2:g.21478del

Transcript Alleles

HGVS	Amino-acid change
ENST00000344265.8:c.744-6del	ENSP00000342931.3:n.744-6del
ENST00000350375.7:c.666-6del MANE Select	ENSP00000263781.2:n.666-6del
ENST00000344265.7:c.744-6del	ENSP00000342931.3:n.744-6del
ENST00000350375.6:c.666-6del	ENSP00000263781.2:n.666-6del
ENST00000560656.1:c.440-6del	ENSP00000452610.1:n.440-6del
ENST00000561167.5:c.441-6del	ENSP00000454072.1:n.441-6del
NM_000306.3:c.666-6del	NP_000297.1:n.666-6del
NM_001122757.2:c.744-6del	NP_001116229.1:n.744-6del
NM_000306.4:c.666-6del MANE Select	NP_000297.1:n.666-6del
NM_001122757.3:c.744-6del	NP_001116229.1:n.744-6del