Canonical Allele Identifier: CA2609821166

Gene: POLR3A

Linked Data

• gnomAD v4: 10-77980228-CCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77980230_77980232del , CM000672.2:g.77980230_77980232del	GRCh38
NC_000010.10:g.79739988_79739990del , CM000672.1:g.79739988_79739990del	GRCh37
NC_000010.9:g.79409994_79409996del	NCBI36
NG_029648.1:g.54310_54312del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698724.1:n.1851_1853del
ENST00000698725.1:n.1604_1606del
ENST00000698726.1:n.3164_3166del
ENST00000698727.1:n.2897_2899del
ENST00000698728.1:n.3513_3515del
ENST00000698729.1:n.4961_4963del
ENST00000698730.1:n.5059_5061del
ENST00000698731.1:c.3793_3795del	ENSP00000513898.1:p.Lys1265del
ENST00000698732.1:c.*2623_*2625del	ENSP00000513899.1:n.*2623_*2625del
ENST00000698733.1:c.*3121_*3123del	ENSP00000513900.1:n.*3121_*3123del
ENST00000698734.1:c.*2107_*2109del	ENSP00000513901.1:n.*2107_*2109del
ENST00000698735.1:n.4285_4287del
ENST00000698736.1:n.4698_4700del
ENST00000698737.1:n.4049_4051del
ENST00000372371.8:c.3934_3936del MANE Select	ENSP00000361446.3:p.Lys1312del
ENST00000372371.7:c.3934_3936del	ENSP00000361446.3:p.Lys1312del
ENST00000616246.4:c.382_384del	ENSP00000483738.1:p.Lys128del
NM_007055.3:c.3934_3936del	NP_008986.2:p.Lys1312del
NM_007055.4:c.3934_3936del MANE Select	NP_008986.2:p.Lys1312del