Canonical Allele Identifier: CA79036431
Gene: POU1F1 HGNC NCBI

Linked Data

dbSNP Id: rs201314981
gnomAD v2: 3-87308903-T-TA
gnomAD v3: 3-87259753-T-TA
gnomAD v4: 3-87259753-T-TA
COSMIC: COSN20080754
MyVariant Identifiers: chr3:g.87308903_87308904insA (hg19) chr3:g.87259753_87259754insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87259753_87259754insA , CM000665.2:g.87259753_87259754insA GRCh38
NC_000003.11:g.87308903_87308904insA , CM000665.1:g.87308903_87308904insA GRCh37
NC_000003.10:g.87391593_87391594insA NCBI36
NG_008225.2:g.21834_21835insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000344265.8:c.*140_*141insT ENSP00000342931.3:n.*140_*141insT
ENST00000350375.7:c.*140_*141insT MANE Select ENSP00000263781.2:n.*140_*141insT
ENST00000344265.7:c.*140_*141insT ENSP00000342931.3:n.*140_*141insT
ENST00000350375.6:c.*140_*141insT ENSP00000263781.2:n.*140_*141insT
NM_000306.3:c.*140_*141insT NP_000297.1:n.*140_*141insT
NM_001122757.2:c.*140_*141insT NP_001116229.1:n.*140_*141insT
NM_000306.4:c.*140_*141insT MANE Select NP_000297.1:n.*140_*141insT
NM_001122757.3:c.*140_*141insT NP_001116229.1:n.*140_*141insT
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