Canonical Allele Identifier: CA594426201
Community Standard Title: NM_007055.4(POLR3A):c.3944_3945del (p.Val1315AlafsTer7)
Gene: POLR3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.77980223_77980224del , CM000672.2:g.77980223_77980224del GRCh38
NC_000010.10:g.79739981_79739982del , CM000672.1:g.79739981_79739982del GRCh37
NC_000010.9:g.79409987_79409988del NCBI36
NG_029648.1:g.54320_54321del

Transcript Alleles

HGVS Amino-acid Change
NM_007055.4:c.3944_3945del MANE Select NP_008986.2:p.Val1315AlafsTer7
ENST00000372371.8:c.3944_3945del MANE Select ENSP00000361446.3:p.Val1315AlafsTer7
NM_007055.3:c.3944_3945del NP_008986.2:p.Val1315AlafsTer7
ENST00000372371.7:c.3944_3945del ENSP00000361446.3:p.Val1315AlafsTer7
ENST00000616246.4:c.392_393del ENSP00000483738.1:p.Val131AlafsTer7
ENST00000698724.1:n.1861_1862del
ENST00000698725.1:n.1614_1615del
ENST00000698726.1:n.3174_3175del
ENST00000698727.1:n.2907_2908del
ENST00000698728.1:n.3523_3524del
ENST00000698729.1:n.4971_4972del
ENST00000698730.1:n.5069_5070del
ENST00000698731.1:c.3803_3804del ENSP00000513898.1:p.Val1268AlafsTer7
ENST00000698732.1:c.*2633_*2634del ENSP00000513899.1:n.*2633_*2634del
ENST00000698733.1:c.*3131_*3132del ENSP00000513900.1:n.*3131_*3132del
ENST00000698734.1:c.*2117_*2118del ENSP00000513901.1:n.*2117_*2118del
ENST00000698735.1:n.4295_4296del
ENST00000698736.1:n.4708_4709del
ENST00000698737.1:n.4059_4060del