Canonical Allele Identifier: CA10619671
Gene: POU1F1 HGNC NCBI

Linked Data

ClinVar Variation Id: 346834
ClinVar RCV Id: RCV000366346 RCV000404010
dbSNP Id: rs368061882
gnomAD v2: 3-87308904-T-TA
gnomAD v3: 3-87259754-T-TA
gnomAD v4: 3-87259754-T-TA
MyVariant Identifiers: chr3:g.87308905dupA (hg19) chr3:g.87308905_87308906insA (hg19) chr3:g.87308904_87308905insA (hg19) chr3:g.87259755dupA (hg38) chr3:g.87259755_87259756insA (hg38) chr3:g.87259754_87259755insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87259762dup , CM000665.2:g.87259762dup GRCh38
NC_000003.11:g.87308912dup , CM000665.1:g.87308912dup GRCh37
NC_000003.10:g.87391602dup NCBI36
NG_008225.2:g.21833dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000344265.8:c.*139dup ENSP00000342931.3:n.*139dup
ENST00000350375.7:c.*139dup MANE Select ENSP00000263781.2:n.*139dup
ENST00000344265.7:c.*139dup ENSP00000342931.3:n.*139dup
ENST00000350375.6:c.*139dup ENSP00000263781.2:n.*139dup
NM_000306.3:c.*139dup NP_000297.1:n.*139dup
NM_001122757.2:c.*139dup NP_001116229.1:n.*139dup
NM_000306.4:c.*139dup MANE Select NP_000297.1:n.*139dup
NM_001122757.3:c.*139dup NP_001116229.1:n.*139dup
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