Canonical Allele Identifier: CA2722113419

Gene: POLR3A

Linked Data

• dbSNP Id: rs2131949655

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78009962_78009963del , CM000672.2:g.78009962_78009963del	GRCh38
NC_000010.10:g.79769720_79769721del , CM000672.1:g.79769720_79769721del	GRCh37
NC_000010.9:g.79439726_79439727del	NCBI36
NG_029648.1:g.24579_24580del

Transcript Alleles

HGVS	Amino-acid change
ENST00000698728.1:n.1251_1252del
ENST00000698729.1:n.2797_2798del
ENST00000698730.1:n.2797_2798del
ENST00000698731.1:c.1531_1532del	ENSP00000513898.1:p.Phe511LeufsTer2
ENST00000698732.1:c.*533_*534del	ENSP00000513899.1:n.*533_*534del
ENST00000698733.1:c.*859_*860del	ENSP00000513900.1:n.*859_*860del
ENST00000698734.1:c.1672_1673del	ENSP00000513901.1:p.Phe558LeufsTer2
ENST00000698735.1:n.1787_1788del
ENST00000698736.1:n.1787_1788del
ENST00000698737.1:n.1787_1788del
ENST00000698738.1:n.1787_1788del
ENST00000698739.1:n.1787_1788del
ENST00000372371.8:c.1672_1673del MANE Select	ENSP00000361446.3:p.Phe558LeufsTer2
ENST00000372371.7:c.1672_1673del	ENSP00000361446.3:p.Phe558LeufsTer2
ENST00000473588.2:c.474_475del
NM_007055.3:c.1672_1673del	NP_008986.2:p.Phe558LeufsTer2
NM_007055.4:c.1672_1673del MANE Select	NP_008986.2:p.Phe558LeufsTer2