Canonical Allele Identifier: CA2573145780

Gene: POLR3A

Linked Data

• ClinVar Variation Id: 1381728
• ClinVar RCV Id: RCV001922043
• dbSNP Id: rs2131949578

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78009897_78009899dup , CM000672.2:g.78009897_78009899dup	GRCh38
NC_000010.10:g.79769655_79769657dup , CM000672.1:g.79769655_79769657dup	GRCh37
NC_000010.9:g.79439661_79439663dup	NCBI36
NG_029648.1:g.24643_24645dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000698728.1:n.1315_1317dup
ENST00000698729.1:n.2861_2863dup
ENST00000698730.1:n.2861_2863dup
ENST00000698731.1:c.1595_1597dup	ENSP00000513898.1:p.Ile532_Lys533insIle
ENST00000698732.1:c.*597_*599dup	ENSP00000513899.1:n.*597_*599dup
ENST00000698733.1:c.*923_*925dup	ENSP00000513900.1:n.*923_*925dup
ENST00000698734.1:c.1736_1738dup	ENSP00000513901.1:p.Ile579_Lys580insIle
ENST00000698735.1:n.1851_1853dup
ENST00000698736.1:n.1851_1853dup
ENST00000698737.1:n.1851_1853dup
ENST00000698738.1:n.1851_1853dup
ENST00000698739.1:n.1851_1853dup
ENST00000372371.8:c.1736_1738dup MANE Select	ENSP00000361446.3:p.Ile579_Lys580insIle
ENST00000372371.7:c.1736_1738dup	ENSP00000361446.3:p.Ile579_Lys580insIle
ENST00000473588.2:c.538_540dup
NM_007055.3:c.1736_1738dup	NP_008986.2:p.Ile579_Lys580insIle
NM_007055.4:c.1736_1738dup MANE Select	NP_008986.2:p.Ile579_Lys580insIle