Canonical Allele Identifier: CA2574591775

Gene: POLR3A

Linked Data

• gnomAD v4: 10-78004744-GGCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78004753_78004755del , CM000672.2:g.78004753_78004755del	GRCh38
NC_000010.10:g.79764511_79764513del , CM000672.1:g.79764511_79764513del	GRCh37
NC_000010.9:g.79434517_79434519del	NCBI36
NG_029648.1:g.29794_29796del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698727.1:n.1276_1278del
ENST00000698728.1:n.1795_1797del
ENST00000698729.1:n.3341_3343del
ENST00000698730.1:n.3341_3343del
ENST00000698731.1:c.2075_2077del	ENSP00000513898.1:p.Gln692del
ENST00000698732.1:c.*1077_*1079del	ENSP00000513899.1:n.*1077_*1079del
ENST00000698733.1:c.*1403_*1405del	ENSP00000513900.1:n.*1403_*1405del
ENST00000698734.1:c.2216_2218del	ENSP00000513901.1:p.Gln739del
ENST00000698735.1:n.2331_2333del
ENST00000698736.1:n.2331_2333del
ENST00000698737.1:n.2331_2333del
ENST00000698738.1:n.2331_2333del
ENST00000698739.1:n.2331_2333del
ENST00000372371.8:c.2216_2218del MANE Select	ENSP00000361446.3:p.Gln739del
ENST00000372371.7:c.2216_2218del	ENSP00000361446.3:p.Gln739del
ENST00000472014.5:n.438_440del
ENST00000473588.2:c.879_881del
NM_007055.3:c.2216_2218del	NP_008986.2:p.Gln739del
NM_007055.4:c.2216_2218del MANE Select	NP_008986.2:p.Gln739del