Canonical Allele Identifier: CA2561569132
Gene: POU4F3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146339919_146339920del , CM000667.2:g.146339919_146339920del GRCh38
NC_000005.9:g.145719482_145719483del , CM000667.1:g.145719482_145719483del GRCh37
NC_000005.8:g.145699675_145699676del NCBI36
NG_011885.1:g.5896_5897del

Transcript Alleles

HGVS Amino-acid change
ENST00000646991.2:c.492_493del MANE Select ENSP00000495718.1:p.Thr166ArgfsTer5
ENST00000230732.4:c.492_493del ENSP00000230732.4:p.Thr166ArgfsTer5
NM_002700.2:c.492_493del NP_002691.1:p.Thr166ArgfsTer5
NM_002700.3:c.492_493del MANE Select NP_002691.1:p.Thr166ArgfsTer5