Canonical Allele Identifier: CA2675813840
Gene: POU4F3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146339555_146339556del , CM000667.2:g.146339555_146339556del GRCh38
NC_000005.9:g.145719118_145719119del , CM000667.1:g.145719118_145719119del GRCh37
NC_000005.8:g.145699311_145699312del NCBI36
NG_011885.1:g.5532_5533del

Transcript Alleles

HGVS Amino-acid Change
ENST00000646991.2:c.128_129del MANE Select ENSP00000495718.1:p.Gly43GlufsTer7
ENST00000230732.4:c.128_129del ENSP00000230732.4:p.Gly43GlufsTer7
NM_002700.2:c.128_129del NP_002691.1:p.Gly43GlufsTer7
NM_002700.3:c.128_129del MANE Select NP_002691.1:p.Gly43GlufsTer7