Canonical Allele Identifier: CA2609823160

Gene: POLR3A

Linked Data

• gnomAD v4: 10-78002233-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78002234del , CM000672.2:g.78002234del	GRCh38
NC_000010.10:g.79761992del , CM000672.1:g.79761992del	GRCh37
NC_000010.9:g.79431998del	NCBI36
NG_029648.1:g.32307del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698727.1:n.1382del
ENST00000698728.1:n.1901del
ENST00000698729.1:n.3447del
ENST00000698730.1:n.3447del
ENST00000698731.1:c.2181del	ENSP00000513898.1:p.Ser727ArgfsTer22
ENST00000698732.1:c.*1183del	ENSP00000513899.1:n.*1183del
ENST00000698733.1:c.*1509del	ENSP00000513900.1:n.*1509del
ENST00000698734.1:c.2322del	ENSP00000513901.1:p.Ser774ArgfsTer22
ENST00000698735.1:n.2437del
ENST00000698736.1:n.2437del
ENST00000698737.1:n.2437del
ENST00000698738.1:n.2437del
ENST00000698739.1:n.2437del
ENST00000372371.8:c.2322del MANE Select	ENSP00000361446.3:p.Ser774ArgfsTer22
ENST00000372371.7:c.2322del	ENSP00000361446.3:p.Ser774ArgfsTer22
ENST00000472014.5:n.469+2482del
ENST00000473588.2:c.985del
NM_007055.3:c.2322del	NP_008986.2:p.Ser774ArgfsTer22
NM_007055.4:c.2322del MANE Select	NP_008986.2:p.Ser774ArgfsTer22