Canonical Allele Identifier: CA911575136
Gene: POU1F1 HGNC NCBI

Linked Data

dbSNP Id: rs1226073565
gnomAD v3: 3-87259764-TG-T
gnomAD v4: 3-87259764-TG-T
MyVariant Identifiers: chr3:g.87308915del (hg19) chr3:g.87259765del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87259766del , CM000665.2:g.87259766del GRCh38
NC_000003.11:g.87308916del , CM000665.1:g.87308916del GRCh37
NC_000003.10:g.87391606del NCBI36
NG_008225.2:g.21823del

Transcript Alleles

HGVS Amino-acid Change
ENST00000344265.8:c.*129del ENSP00000342931.3:n.*129del
ENST00000350375.7:c.*129del MANE Select ENSP00000263781.2:n.*129del
ENST00000344265.7:c.*129del ENSP00000342931.3:n.*129del
ENST00000350375.6:c.*129del ENSP00000263781.2:n.*129del
NM_000306.3:c.*129del NP_000297.1:n.*129del
NM_001122757.2:c.*129del NP_001116229.1:n.*129del
NM_000306.4:c.*129del MANE Select NP_000297.1:n.*129del
NM_001122757.3:c.*129del NP_001116229.1:n.*129del
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