Canonical Allele Identifier: CA470397181
Gene: POLR3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.78000062_78000063del , CM000672.2:g.78000062_78000063del GRCh38
NC_000010.10:g.79759820_79759821del , CM000672.1:g.79759820_79759821del GRCh37
NC_000010.9:g.79429826_79429827del NCBI36
NG_029648.1:g.34478_34479del

Transcript Alleles

HGVS Amino-acid Change
ENST00000698727.1:n.1594_1595del
ENST00000698728.1:n.2113_2114del
ENST00000698729.1:n.3659_3660del
ENST00000698730.1:n.3659_3660del
ENST00000698731.1:c.2393_2394del ENSP00000513898.1:p.Thr798ArgfsTer22
ENST00000698732.1:c.*1395_*1396del ENSP00000513899.1:n.*1395_*1396del
ENST00000698733.1:c.*1721_*1722del ENSP00000513900.1:n.*1721_*1722del
ENST00000698734.1:c.2534_2535del ENSP00000513901.1:p.Thr845ArgfsTer22
ENST00000698735.1:n.2649_2650del
ENST00000698736.1:n.2649_2650del
ENST00000698737.1:n.2649_2650del
ENST00000698738.1:n.2649_2650del
ENST00000698739.1:n.2649_2650del
ENST00000372371.8:c.2534_2535del MANE Select ENSP00000361446.3:p.Thr845ArgfsTer22
ENST00000372371.7:c.2534_2535del ENSP00000361446.3:p.Thr845ArgfsTer22
ENST00000472014.5:n.469+4653_469+4654del
NM_007055.3:c.2534_2535del NP_008986.2:p.Thr845ArgfsTer22
NM_007055.4:c.2534_2535del MANE Select NP_008986.2:p.Thr845ArgfsTer22