Canonical Allele Identifier: CA10617542
Gene: POU1F1 HGNC NCBI

Linked Data

ClinVar Variation Id: 346835
ClinVar RCV Id: RCV000274010
dbSNP Id: rs368061882
gnomAD v2: 3-87308904-T-TAA
gnomAD v3: 3-87259754-T-TAA
gnomAD v4: 3-87259754-T-TAA
MyVariant Identifiers: chr3:g.87308905_87308906dupAA (hg19) chr3:g.87308905_87308906insAA (hg19) chr3:g.87308904_87308905insAA (hg19) chr3:g.87259755_87259756dupAA (hg38) chr3:g.87259755_87259756insAA (hg38) chr3:g.87259754_87259755insAA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87259761_87259762dup , CM000665.2:g.87259761_87259762dup GRCh38
NC_000003.11:g.87308911_87308912dup , CM000665.1:g.87308911_87308912dup GRCh37
NC_000003.10:g.87391601_87391602dup NCBI36
NG_008225.2:g.21832_21833dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000344265.8:c.*138_*139dup ENSP00000342931.3:n.*138_*139dup
ENST00000350375.7:c.*138_*139dup MANE Select ENSP00000263781.2:n.*138_*139dup
ENST00000344265.7:c.*138_*139dup ENSP00000342931.3:n.*138_*139dup
ENST00000350375.6:c.*138_*139dup ENSP00000263781.2:n.*138_*139dup
NM_000306.3:c.*138_*139dup NP_000297.1:n.*138_*139dup
NM_001122757.2:c.*138_*139dup NP_001116229.1:n.*138_*139dup
NM_000306.4:c.*138_*139dup MANE Select NP_000297.1:n.*138_*139dup
NM_001122757.3:c.*138_*139dup NP_001116229.1:n.*138_*139dup
Search 100 bp 5'
Search 100 bp 3'