Canonical Allele Identifier: CA2788643993
Gene: POLR3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.78009779_78009780del , CM000672.2:g.78009779_78009780del GRCh38
NC_000010.10:g.79769537_79769538del , CM000672.1:g.79769537_79769538del GRCh37
NC_000010.9:g.79439543_79439544del NCBI36
NG_029648.1:g.24761_24762del

Transcript Alleles

HGVS Amino-acid Change
ENST00000698728.1:n.1349+84_1349+85del
ENST00000698729.1:n.2895+84_2895+85del
ENST00000698730.1:n.2895+84_2895+85del
ENST00000698731.1:c.1629+84_1629+85del ENSP00000513898.1:n.1629+84_1629+85del
ENST00000698732.1:c.*631+84_*631+85del ENSP00000513899.1:n.*631+84_*631+85del
ENST00000698733.1:c.*957+84_*957+85del ENSP00000513900.1:n.*957+84_*957+85del
ENST00000698734.1:c.1770+84_1770+85del ENSP00000513901.1:n.1770+84_1770+85del
ENST00000698735.1:n.1885+84_1885+85del
ENST00000698736.1:n.1885+84_1885+85del
ENST00000698737.1:n.1885+84_1885+85del
ENST00000698738.1:n.1885+84_1885+85del
ENST00000698739.1:n.1885+84_1885+85del
ENST00000372371.8:c.1770+84_1770+85del MANE Select ENSP00000361446.3:n.1770+84_1770+85del
ENST00000372371.7:c.1770+84_1770+85del ENSP00000361446.3:n.1770+84_1770+85del
ENST00000473588.2:c.572+84_572+85del
NM_007055.3:c.1770+84_1770+85del NP_008986.2:n.1770+84_1770+85del
NM_007055.4:c.1770+84_1770+85del MANE Select NP_008986.2:n.1770+84_1770+85del