Canonical Allele Identifier: CA210198638

Gene: POLR3A

Linked Data

• ClinVar Variation Id: 1184600
• ClinVar RCV Id: RCV001542769
• dbSNP Id: rs764313785
• gnomAD v4: 10-78000042-AT-A
• MyVariant Identifiers: chr10:g.79759801del (hg19) ; chr10:g.78000043del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78000044del , CM000672.2:g.78000044del	GRCh38
NC_000010.10:g.79759802del , CM000672.1:g.79759802del	GRCh37
NC_000010.9:g.79429808del	NCBI36
NG_029648.1:g.34498del

Transcript Alleles

HGVS	Amino-acid change
ENST00000698727.1:n.1614del
ENST00000698728.1:n.2133del
ENST00000698729.1:n.3679del
ENST00000698730.1:n.3679del
ENST00000698731.1:c.2413del	ENSP00000513898.1:p.Met805TrpfsTer7
ENST00000698732.1:c.*1415del	ENSP00000513899.1:n.*1415del
ENST00000698733.1:c.*1741del	ENSP00000513900.1:n.*1741del
ENST00000698734.1:c.2554del	ENSP00000513901.1:p.Met852TrpfsTer7
ENST00000698735.1:n.2669del
ENST00000698736.1:n.2669del
ENST00000698737.1:n.2669del
ENST00000698738.1:n.2669del
ENST00000698739.1:n.2669del
ENST00000372371.8:c.2554del MANE Select	ENSP00000361446.3:p.Met852TrpfsTer7
ENST00000372371.7:c.2554del	ENSP00000361446.3:p.Met852TrpfsTer7
ENST00000472014.5:n.469+4673del
NM_007055.3:c.2554del	NP_008986.2:p.Met852TrpfsTer7
NM_007055.4:c.2554del MANE Select	NP_008986.2:p.Met852TrpfsTer7