Canonical Allele Identifier: CA1921506496

Gene: POLR3A

Linked Data

• dbSNP Id: rs1847339382
• gnomAD v3: 10-77999885-AAATT-A
• gnomAD v4: 10-77999885-AAATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77999887_77999890del , CM000672.2:g.77999887_77999890del	GRCh38
NC_000010.10:g.79759645_79759648del , CM000672.1:g.79759645_79759648del	GRCh37
NC_000010.9:g.79429651_79429654del	NCBI36
NG_029648.1:g.34652_34655del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698727.1:n.1676+92_1676+95del
ENST00000698728.1:n.2195+92_2195+95del
ENST00000698729.1:n.3741+92_3741+95del
ENST00000698730.1:n.3741+92_3741+95del
ENST00000698731.1:c.2475+92_2475+95del	ENSP00000513898.1:n.2475+92_2475+95del
ENST00000698732.1:c.*1477+92_*1477+95del	ENSP00000513899.1:n.*1477+92_*1477+95del
ENST00000698733.1:c.*1803+92_*1803+95del	ENSP00000513900.1:n.*1803+92_*1803+95del
ENST00000698734.1:c.2616+92_2616+95del	ENSP00000513901.1:n.2616+92_2616+95del
ENST00000698735.1:n.2731+92_2731+95del
ENST00000698736.1:n.2731+92_2731+95del
ENST00000698737.1:n.2731+92_2731+95del
ENST00000698738.1:n.2731+92_2731+95del
ENST00000698739.1:n.2731+92_2731+95del
ENST00000372371.8:c.2616+92_2616+95del MANE Select	ENSP00000361446.3:n.2616+92_2616+95del
ENST00000372371.7:c.2616+92_2616+95del	ENSP00000361446.3:n.2616+92_2616+95del
ENST00000472014.5:n.469+4827_469+4830del
NM_007055.3:c.2616+92_2616+95del	NP_008986.2:n.2616+92_2616+95del
NM_007055.4:c.2616+92_2616+95del MANE Select	NP_008986.2:n.2616+92_2616+95del