Canonical Allele Identifier: CA2580082002

Gene: POLR3A

Linked Data

• ClinVar Variation Id: 2047364
• ClinVar RCV Id: RCV002904251

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77999962_77999965del , CM000672.2:g.77999962_77999965del	GRCh38
NC_000010.10:g.79759720_79759723del , CM000672.1:g.79759720_79759723del	GRCh37
NC_000010.9:g.79429726_79429729del	NCBI36
NG_029648.1:g.34577_34580del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698727.1:n.1676+17_1676+20del
ENST00000698728.1:n.2195+17_2195+20del
ENST00000698729.1:n.3741+17_3741+20del
ENST00000698730.1:n.3741+17_3741+20del
ENST00000698731.1:c.2475+17_2475+20del	ENSP00000513898.1:n.2475+17_2475+20del
ENST00000698732.1:c.*1477+17_*1477+20del	ENSP00000513899.1:n.*1477+17_*1477+20del
ENST00000698733.1:c.*1803+17_*1803+20del	ENSP00000513900.1:n.*1803+17_*1803+20del
ENST00000698734.1:c.2616+17_2616+20del	ENSP00000513901.1:n.2616+17_2616+20del
ENST00000698735.1:n.2731+17_2731+20del
ENST00000698736.1:n.2731+17_2731+20del
ENST00000698737.1:n.2731+17_2731+20del
ENST00000698738.1:n.2731+17_2731+20del
ENST00000698739.1:n.2731+17_2731+20del
ENST00000372371.8:c.2616+17_2616+20del MANE Select	ENSP00000361446.3:n.2616+17_2616+20del
ENST00000372371.7:c.2616+17_2616+20del	ENSP00000361446.3:n.2616+17_2616+20del
ENST00000472014.5:n.469+4752_469+4755del
NM_007055.3:c.2616+17_2616+20del	NP_008986.2:n.2616+17_2616+20del
NM_007055.4:c.2616+17_2616+20del MANE Select	NP_008986.2:n.2616+17_2616+20del