Canonical Allele Identifier: CA2788643992
Gene: POLR3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.78009774_78009776del , CM000672.2:g.78009774_78009776del GRCh38
NC_000010.10:g.79769532_79769534del , CM000672.1:g.79769532_79769534del GRCh37
NC_000010.9:g.79439538_79439540del NCBI36
NG_029648.1:g.24765_24767del

Transcript Alleles

HGVS Amino-acid Change
ENST00000698728.1:n.1349+88_1349+90del
ENST00000698729.1:n.2895+88_2895+90del
ENST00000698730.1:n.2895+88_2895+90del
ENST00000698731.1:c.1629+88_1629+90del ENSP00000513898.1:n.1629+88_1629+90del
ENST00000698732.1:c.*631+88_*631+90del ENSP00000513899.1:n.*631+88_*631+90del
ENST00000698733.1:c.*957+88_*957+90del ENSP00000513900.1:n.*957+88_*957+90del
ENST00000698734.1:c.1770+88_1770+90del ENSP00000513901.1:n.1770+88_1770+90del
ENST00000698735.1:n.1885+88_1885+90del
ENST00000698736.1:n.1885+88_1885+90del
ENST00000698737.1:n.1885+88_1885+90del
ENST00000698738.1:n.1885+88_1885+90del
ENST00000698739.1:n.1885+88_1885+90del
ENST00000372371.8:c.1770+88_1770+90del MANE Select ENSP00000361446.3:n.1770+88_1770+90del
ENST00000372371.7:c.1770+88_1770+90del ENSP00000361446.3:n.1770+88_1770+90del
ENST00000473588.2:c.572+88_572+90del
NM_007055.3:c.1770+88_1770+90del NP_008986.2:n.1770+88_1770+90del
NM_007055.4:c.1770+88_1770+90del MANE Select NP_008986.2:n.1770+88_1770+90del