Canonical Allele Identifier: CA2695212266
Gene: POLR3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.78000037del , CM000672.2:g.78000037del GRCh38
NC_000010.10:g.79759795del , CM000672.1:g.79759795del GRCh37
NC_000010.9:g.79429801del NCBI36
NG_029648.1:g.34505del

Transcript Alleles

HGVS Amino-acid Change
ENST00000698727.1:n.1621del
ENST00000698728.1:n.2140del
ENST00000698729.1:n.3686del
ENST00000698730.1:n.3686del
ENST00000698731.1:c.2420del ENSP00000513898.1:p.Gly807AlafsTer5
ENST00000698732.1:c.*1422del ENSP00000513899.1:n.*1422del
ENST00000698733.1:c.*1748del ENSP00000513900.1:n.*1748del
ENST00000698734.1:c.2561del ENSP00000513901.1:p.Gly854AlafsTer5
ENST00000698735.1:n.2676del
ENST00000698736.1:n.2676del
ENST00000698737.1:n.2676del
ENST00000698738.1:n.2676del
ENST00000698739.1:n.2676del
ENST00000372371.8:c.2561del MANE Select ENSP00000361446.3:p.Gly854AlafsTer5
ENST00000372371.7:c.2561del ENSP00000361446.3:p.Gly854AlafsTer5
ENST00000472014.5:n.469+4680del
NM_007055.3:c.2561del NP_008986.2:p.Gly854AlafsTer5
NM_007055.4:c.2561del MANE Select NP_008986.2:p.Gly854AlafsTer5