Canonical Allele Identifier: CA5570662

Gene: POLR3A

Linked Data

• dbSNP Id: rs750161571
• ExAC: 10:79740076 CA / C
• gnomAD v2: 10-79740076-CA-C
• gnomAD v4: 10-77980318-CA-C
• MyVariant Identifiers: chr10:g.79740077del (hg19) ; chr10:g.77980319del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77980322del , CM000672.2:g.77980322del	GRCh38
NC_000010.10:g.79740080del , CM000672.1:g.79740080del	GRCh37
NC_000010.9:g.79410086del	NCBI36
NG_029648.1:g.54222del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698724.1:n.1809-46del
ENST00000698725.1:n.1516del
ENST00000698726.1:n.3122-46del
ENST00000698727.1:n.2855-46del
ENST00000698728.1:n.3471-46del
ENST00000698729.1:n.4919-46del
ENST00000698730.1:n.5017-46del
ENST00000698731.1:c.3751-46del	ENSP00000513898.1:n.3751-46del
ENST00000698732.1:c.*2581-46del	ENSP00000513899.1:n.*2581-46del
ENST00000698733.1:c.*3079-46del	ENSP00000513900.1:n.*3079-46del
ENST00000698734.1:c.*2065-46del	ENSP00000513901.1:n.*2065-46del
ENST00000698735.1:n.4243-46del
ENST00000698736.1:n.4656-46del
ENST00000698737.1:n.4007-46del
ENST00000372371.8:c.3892-46del MANE Select	ENSP00000361446.3:n.3892-46del
ENST00000372371.7:c.3892-46del	ENSP00000361446.3:n.3892-46del
ENST00000616246.4:c.340-46del	ENSP00000483738.1:n.340-46del
NM_007055.3:c.3892-46del	NP_008986.2:n.3892-46del
NM_007055.4:c.3892-46del MANE Select	NP_008986.2:n.3892-46del