Canonical Allele Identifier: CA10616749
Gene: POU1F1 HGNC NCBI

Linked Data

ClinVar Variation Id: 346830
ClinVar RCV Id: RCV000305428
dbSNP Id: rs370744962
gnomAD v2: 3-87308861-GTAAA-G
gnomAD v3: 3-87259711-GTAAA-G
gnomAD v4: 3-87259711-GTAAA-G
MyVariant Identifiers: chr3:g.87308862_87308865del (hg19) chr3:g.87259712_87259715del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87259715_87259718del , CM000665.2:g.87259715_87259718del GRCh38
NC_000003.11:g.87308865_87308868del , CM000665.1:g.87308865_87308868del GRCh37
NC_000003.10:g.87391555_87391558del NCBI36
NG_008225.2:g.21873_21876del

Transcript Alleles

HGVS Amino-acid Change
ENST00000344265.8:c.*179_*182del ENSP00000342931.3:n.*179_*182del
ENST00000350375.7:c.*179_*182del MANE Select ENSP00000263781.2:n.*179_*182del
ENST00000350375.6:c.*179_*182del ENSP00000263781.2:n.*179_*182del
NM_000306.3:c.*179_*182del NP_000297.1:n.*179_*182del
NM_001122757.2:c.*179_*182del NP_001116229.1:n.*179_*182del
NM_000306.4:c.*179_*182del MANE Select NP_000297.1:n.*179_*182del
NM_001122757.3:c.*179_*182del NP_001116229.1:n.*179_*182del
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