Canonical Allele Identifier: CA2675813846

Gene: POU4F3

Linked Data

• gnomAD v4: 5-146339915-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.146339918del , CM000667.2:g.146339918del	GRCh38
NC_000005.9:g.145719481del , CM000667.1:g.145719481del	GRCh37
NC_000005.8:g.145699674del	NCBI36
NG_011885.1:g.5895del

Transcript Alleles

HGVS	Amino-acid change
ENST00000646991.2:c.491del MANE Select	ENSP00000495718.1:p.Pro164ArgfsTer?
ENST00000230732.4:c.491del	ENSP00000230732.4:p.Pro164ArgfsTer?
NM_002700.2:c.491del	NP_002691.1:p.Pro164ArgfsTer?
NM_002700.3:c.491del MANE Select	NP_002691.1:p.Pro164ArgfsTer?