Canonical Allele Identifier: CA1921507495

Gene: POLR3A

Linked Data

• ClinVar Variation Id: 1034345
• ClinVar RCV Id: RCV001337043
• dbSNP Id: rs1847364209
• gnomAD v4: 10-78002226-GGGCTGTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78002228_78002234del , CM000672.2:g.78002228_78002234del	GRCh38
NC_000010.10:g.79761986_79761992del , CM000672.1:g.79761986_79761992del	GRCh37
NC_000010.9:g.79431992_79431998del	NCBI36
NG_029648.1:g.32308_32314del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698727.1:n.1383_1389del
ENST00000698728.1:n.1902_1908del
ENST00000698729.1:n.3448_3454del
ENST00000698730.1:n.3448_3454del
ENST00000698731.1:c.2182_2188del	ENSP00000513898.1:p.Asn728ProfsTer19
ENST00000698732.1:c.*1184_*1190del	ENSP00000513899.1:n.*1184_*1190del
ENST00000698733.1:c.*1510_*1516del	ENSP00000513900.1:n.*1510_*1516del
ENST00000698734.1:c.2323_2329del	ENSP00000513901.1:p.Asn775ProfsTer19
ENST00000698735.1:n.2438_2444del
ENST00000698736.1:n.2438_2444del
ENST00000698737.1:n.2438_2444del
ENST00000698738.1:n.2438_2444del
ENST00000698739.1:n.2438_2444del
ENST00000372371.8:c.2323_2329del MANE Select	ENSP00000361446.3:p.Asn775ProfsTer19
ENST00000372371.7:c.2323_2329del	ENSP00000361446.3:p.Asn775ProfsTer19
ENST00000472014.5:n.469+2483_469+2489del
ENST00000473588.2:c.986_992del
NM_007055.3:c.2323_2329del	NP_008986.2:p.Asn775ProfsTer19
NM_007055.4:c.2323_2329del MANE Select	NP_008986.2:p.Asn775ProfsTer19