Canonical Allele Identifier: CA2501099
Gene: POU1F1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2789858
ClinVar RCV Id: RCV003667128
dbSNP Id: rs755851820
ExAC: 3:87309259 C / CCG
gnomAD v2: 3-87309259-C-CCG
gnomAD v3: 3-87260109-C-CCG
gnomAD v4: 3-87260109-C-CCG
MyVariant Identifiers: chr3:g.87309259_87309260insCG (hg19) chr3:g.87309260delinsCGG (hg19) chr3:g.87260109_87260110insCG (hg38) chr3:g.87260110delinsCGG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87260109_87260110insCG , CM000665.2:g.87260109_87260110insCG GRCh38
NC_000003.11:g.87309259_87309260insCG , CM000665.1:g.87309259_87309260insCG GRCh37
NC_000003.10:g.87391949_87391950insCG NCBI36
NG_008225.2:g.21478_21479insCG

Transcript Alleles

HGVS Amino-acid change
ENST00000344265.8:c.744-6_744-5insCG ENSP00000342931.3:n.744-6_744-5insCG
ENST00000350375.7:c.666-6_666-5insCG MANE Select ENSP00000263781.2:n.666-6_666-5insCG
ENST00000344265.7:c.744-6_744-5insCG ENSP00000342931.3:n.744-6_744-5insCG
ENST00000350375.6:c.666-6_666-5insCG ENSP00000263781.2:n.666-6_666-5insCG
ENST00000560656.1:c.440-6_440-5insCG ENSP00000452610.1:n.440-6_440-5insCG
ENST00000561167.5:c.441-6_441-5insCG ENSP00000454072.1:n.441-6_441-5insCG
NM_000306.3:c.666-6_666-5insCG NP_000297.1:n.666-6_666-5insCG
NM_001122757.2:c.744-6_744-5insCG NP_001116229.1:n.744-6_744-5insCG
NM_000306.4:c.666-6_666-5insCG MANE Select NP_000297.1:n.666-6_666-5insCG
NM_001122757.3:c.744-6_744-5insCG NP_001116229.1:n.744-6_744-5insCG
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