Canonical Allele Identifier: CA344257
Community Standard Title: NM_007055.4(POLR3A):c.3742_3743insACC (p.Ser1248delinsTyrPro)
Gene: POLR3A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.77982170_77982171insGGT , CM000672.2:g.77982170_77982171insGGT GRCh38
NC_000010.10:g.79741928_79741929insGGT , CM000672.1:g.79741928_79741929insGGT GRCh37
NC_000010.9:g.79411934_79411935insGGT NCBI36
NG_029648.1:g.52370_52371insACC

Transcript Alleles

HGVS Amino-acid Change
NM_007055.4:c.3742_3743insACC MANE Select NP_008986.2:p.Ser1248delinsTyrPro
ENST00000372371.8:c.3742_3743insACC MANE Select ENSP00000361446.3:p.Ser1248delinsTyrPro
NM_007055.3:c.3742_3743insACC NP_008986.2:p.Ser1248delinsTyrPro
ENST00000372371.7:c.3742_3743insACC ENSP00000361446.3:p.Ser1248delinsTyrPro
ENST00000616246.4:c.190_191insACC ENSP00000483738.1:p.Ser64delinsTyrPro
ENST00000698724.1:n.1659_1660insACC
ENST00000698726.1:n.2972_2973insACC
ENST00000698727.1:n.2705_2706insACC
ENST00000698728.1:n.3321_3322insACC
ENST00000698729.1:n.4769_4770insACC
ENST00000698730.1:n.4867_4868insACC
ENST00000698731.1:c.3601_3602insACC ENSP00000513898.1:p.Ser1201delinsTyrPro
ENST00000698732.1:c.*2448+57_*2448+58insACC ENSP00000513899.1:n.*2448+57_*2448+58insACC
ENST00000698733.1:c.*2929_*2930insACC ENSP00000513900.1:n.*2929_*2930insACC
ENST00000698734.1:c.*1915_*1916insACC ENSP00000513901.1:n.*1915_*1916insACC
ENST00000698735.1:n.4093_4094insACC
ENST00000698736.1:n.4506_4507insACC
ENST00000698737.1:n.3857_3858insACC
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