Canonical Allele Identifier: CA2609823143

Gene: POLR3A

Linked Data

• gnomAD v4: 10-78009799-TCACCAGTCTACCCCCACAGACACATACACA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78009804_78009833del , CM000672.2:g.78009804_78009833del	GRCh38
NC_000010.10:g.79769562_79769591del , CM000672.1:g.79769562_79769591del	GRCh37
NC_000010.9:g.79439568_79439597del	NCBI36
NG_029648.1:g.24712_24741del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698728.1:n.1349+35_1349+64del
ENST00000698729.1:n.2895+35_2895+64del
ENST00000698730.1:n.2895+35_2895+64del
ENST00000698731.1:c.1629+35_1629+64del	ENSP00000513898.1:n.1629+35_1629+64del
ENST00000698732.1:c.*631+35_*631+64del	ENSP00000513899.1:n.*631+35_*631+64del
ENST00000698733.1:c.*957+35_*957+64del	ENSP00000513900.1:n.*957+35_*957+64del
ENST00000698734.1:c.1770+35_1770+64del	ENSP00000513901.1:n.1770+35_1770+64del
ENST00000698735.1:n.1885+35_1885+64del
ENST00000698736.1:n.1885+35_1885+64del
ENST00000698737.1:n.1885+35_1885+64del
ENST00000698738.1:n.1885+35_1885+64del
ENST00000698739.1:n.1885+35_1885+64del
ENST00000372371.8:c.1770+35_1770+64del MANE Select	ENSP00000361446.3:n.1770+35_1770+64del
ENST00000372371.7:c.1770+35_1770+64del	ENSP00000361446.3:n.1770+35_1770+64del
ENST00000473588.2:c.572+35_572+64del
NM_007055.3:c.1770+35_1770+64del	NP_008986.2:n.1770+35_1770+64del
NM_007055.4:c.1770+35_1770+64del MANE Select	NP_008986.2:n.1770+35_1770+64del