Canonical Allele Identifier: CA2609823145

Gene: POLR3A

Linked Data

• gnomAD v4: 10-78009805-GTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78009807_78009808del , CM000672.2:g.78009807_78009808del	GRCh38
NC_000010.10:g.79769565_79769566del , CM000672.1:g.79769565_79769566del	GRCh37
NC_000010.9:g.79439571_79439572del	NCBI36
NG_029648.1:g.24734_24735del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698728.1:n.1349+57_1349+58del
ENST00000698729.1:n.2895+57_2895+58del
ENST00000698730.1:n.2895+57_2895+58del
ENST00000698731.1:c.1629+57_1629+58del	ENSP00000513898.1:n.1629+57_1629+58del
ENST00000698732.1:c.*631+57_*631+58del	ENSP00000513899.1:n.*631+57_*631+58del
ENST00000698733.1:c.*957+57_*957+58del	ENSP00000513900.1:n.*957+57_*957+58del
ENST00000698734.1:c.1770+57_1770+58del	ENSP00000513901.1:n.1770+57_1770+58del
ENST00000698735.1:n.1885+57_1885+58del
ENST00000698736.1:n.1885+57_1885+58del
ENST00000698737.1:n.1885+57_1885+58del
ENST00000698738.1:n.1885+57_1885+58del
ENST00000698739.1:n.1885+57_1885+58del
ENST00000372371.8:c.1770+57_1770+58del MANE Select	ENSP00000361446.3:n.1770+57_1770+58del
ENST00000372371.7:c.1770+57_1770+58del	ENSP00000361446.3:n.1770+57_1770+58del
ENST00000473588.2:c.572+57_572+58del
NM_007055.3:c.1770+57_1770+58del	NP_008986.2:n.1770+57_1770+58del
NM_007055.4:c.1770+57_1770+58del MANE Select	NP_008986.2:n.1770+57_1770+58del