Canonical Allele Identifier: CA2609822075

Gene: POLR3A

Linked Data

• gnomAD v4: 10-78000050-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78000052del , CM000672.2:g.78000052del	GRCh38
NC_000010.10:g.79759810del , CM000672.1:g.79759810del	GRCh37
NC_000010.9:g.79429816del	NCBI36
NG_029648.1:g.34490del

Transcript Alleles

HGVS	Amino-acid change
ENST00000698727.1:n.1606del
ENST00000698728.1:n.2125del
ENST00000698729.1:n.3671del
ENST00000698730.1:n.3671del
ENST00000698731.1:c.2405del	ENSP00000513898.1:p.Phe802SerfsTer10
ENST00000698732.1:c.*1407del	ENSP00000513899.1:n.*1407del
ENST00000698733.1:c.*1733del	ENSP00000513900.1:n.*1733del
ENST00000698734.1:c.2546del	ENSP00000513901.1:p.Phe849SerfsTer10
ENST00000698735.1:n.2661del
ENST00000698736.1:n.2661del
ENST00000698737.1:n.2661del
ENST00000698738.1:n.2661del
ENST00000698739.1:n.2661del
ENST00000372371.8:c.2546del MANE Select	ENSP00000361446.3:p.Phe849SerfsTer10
ENST00000372371.7:c.2546del	ENSP00000361446.3:p.Phe849SerfsTer10
ENST00000472014.5:n.469+4665del
NM_007055.3:c.2546del	NP_008986.2:p.Phe849SerfsTer10
NM_007055.4:c.2546del MANE Select	NP_008986.2:p.Phe849SerfsTer10