Canonical Allele Identifier: CA2574591312
Gene: POLR3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.77980110_77980111del , CM000672.2:g.77980110_77980111del GRCh38
NC_000010.10:g.79739868_79739869del , CM000672.1:g.79739868_79739869del GRCh37
NC_000010.9:g.79409874_79409875del NCBI36
NG_029648.1:g.54431_54432del

Transcript Alleles

HGVS Amino-acid Change
ENST00000698724.1:n.1941+31_1941+32del
ENST00000698725.1:n.1694+31_1694+32del
ENST00000698726.1:n.3254+31_3254+32del
ENST00000698727.1:n.2987+31_2987+32del
ENST00000698728.1:n.3603+31_3603+32del
ENST00000698729.1:n.5051+31_5051+32del
ENST00000698730.1:n.5149+31_5149+32del
ENST00000698731.1:c.3883+31_3883+32del ENSP00000513898.1:n.3883+31_3883+32del
ENST00000698732.1:c.*2713+31_*2713+32del ENSP00000513899.1:n.*2713+31_*2713+32del
ENST00000698733.1:c.*3211+31_*3211+32del ENSP00000513900.1:n.*3211+31_*3211+32del
ENST00000698734.1:c.*2197+31_*2197+32del ENSP00000513901.1:n.*2197+31_*2197+32del
ENST00000698735.1:n.4375+31_4375+32del
ENST00000698736.1:n.4788+31_4788+32del
ENST00000698737.1:n.4170_4171del
ENST00000372371.8:c.4024+31_4024+32del MANE Select ENSP00000361446.3:n.4024+31_4024+32del
ENST00000372371.7:c.4024+31_4024+32del ENSP00000361446.3:n.4024+31_4024+32del
ENST00000616246.4:c.472+31_472+32del ENSP00000483738.1:n.472+31_472+32del
NM_007055.3:c.4024+31_4024+32del NP_008986.2:n.4024+31_4024+32del
NM_007055.4:c.4024+31_4024+32del MANE Select NP_008986.2:n.4024+31_4024+32del