Canonical Allele Identifier: CA2609821992
Gene: POLR3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.77999986del , CM000672.2:g.77999986del GRCh38
NC_000010.10:g.79759744del , CM000672.1:g.79759744del GRCh37
NC_000010.9:g.79429750del NCBI36
NG_029648.1:g.34555del

Transcript Alleles

HGVS Amino-acid Change
ENST00000698727.1:n.1671del
ENST00000698728.1:n.2190del
ENST00000698729.1:n.3736del
ENST00000698730.1:n.3736del
ENST00000698731.1:c.2470del ENSP00000513898.1:p.Met824CysfsTer18
ENST00000698732.1:c.*1472del ENSP00000513899.1:n.*1472del
ENST00000698733.1:c.*1798del ENSP00000513900.1:n.*1798del
ENST00000698734.1:c.2611del ENSP00000513901.1:p.Met871CysfsTer14
ENST00000698735.1:n.2726del
ENST00000698736.1:n.2726del
ENST00000698737.1:n.2726del
ENST00000698738.1:n.2726del
ENST00000698739.1:n.2726del
ENST00000372371.8:c.2611del MANE Select ENSP00000361446.3:p.Met871CysfsTer18
ENST00000372371.7:c.2611del ENSP00000361446.3:p.Met871CysfsTer18
ENST00000472014.5:n.469+4730del
NM_007055.3:c.2611del NP_008986.2:p.Met871CysfsTer18
NM_007055.4:c.2611del MANE Select NP_008986.2:p.Met871CysfsTer18