Canonical Allele Identifier: CA2695205583
Gene: POU4F3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146339794del , CM000667.2:g.146339794del GRCh38
NC_000005.9:g.145719357del , CM000667.1:g.145719357del GRCh37
NC_000005.8:g.145699550del NCBI36
NG_011885.1:g.5771del

Transcript Alleles

HGVS Amino-acid Change
ENST00000646991.2:c.367del MANE Select ENSP00000495718.1:p.Ile123SerfsTer5
ENST00000230732.4:c.367del ENSP00000230732.4:p.Ile123SerfsTer5
NM_002700.2:c.367del NP_002691.1:p.Ile123SerfsTer5
NM_002700.3:c.367del MANE Select NP_002691.1:p.Ile123SerfsTer5
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