Canonical Allele Identifier: CA2825001422
Gene: POU4F3 HGNC NCBI

Linked Data

ClinVar Variation Id: 3236702
ClinVar RCV Id: RCV004556162
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146340250_146340269del , CM000667.2:g.146340250_146340269del GRCh38
NC_000005.9:g.145719813_145719832del , CM000667.1:g.145719813_145719832del GRCh37
NC_000005.8:g.145700006_145700025del NCBI36
NG_011885.1:g.6227_6246del

Transcript Alleles

HGVS Amino-acid Change
ENST00000646991.2:c.823_842del MANE Select ENSP00000495718.1:p.Lys275ArgfsTer21
ENST00000230732.4:c.823_842del ENSP00000230732.4:p.Lys275ArgfsTer21
NM_002700.2:c.823_842del NP_002691.1:p.Lys275ArgfsTer21
NM_002700.3:c.823_842del MANE Select NP_002691.1:p.Lys275ArgfsTer21
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