Canonical Allele Identifier: CA2580073020
Gene: POU4F3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1705548
ClinVar RCV Id: RCV002283862
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146339906del , CM000667.2:g.146339906del GRCh38
NC_000005.9:g.145719469del , CM000667.1:g.145719469del GRCh37
NC_000005.8:g.145699662del NCBI36
NG_011885.1:g.5883del

Transcript Alleles

HGVS Amino-acid Change
ENST00000646991.2:c.479del MANE Select ENSP00000495718.1:p.Gly160AlafsTer2
ENST00000230732.4:c.479del ENSP00000230732.4:p.Gly160AlafsTer2
NM_002700.2:c.479del NP_002691.1:p.Gly160AlafsTer2
NM_002700.3:c.479del MANE Select NP_002691.1:p.Gly160AlafsTer2
Search 100 bp 5'
Search 100 bp 3'