Canonical Allele Identifier: CA2577023198
Gene: POLR1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030198_86030199del , CM000664.2:g.86030198_86030199del GRCh38
NC_000002.11:g.86257321_86257322del , CM000664.1:g.86257321_86257322del GRCh37
NC_000002.10:g.86110832_86110833del NCBI36
NG_050742.2:g.80959_80960del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4778_4779del MANE Select ENSP00000263857.6:p.Glu1593GlyfsTer22
ENST00000263857.10:c.4778_4779del ENSP00000263857.6:p.Glu1593GlyfsTer22
ENST00000409681.1:c.4595_4596del ENSP00000386300.1:p.Glu1532GlyfsTer22
NM_015425.3:c.4778_4779del NP_056240.2:p.Glu1593GlyfsTer22
XM_006711983.2:c.4454_4455del XP_006712046.1:p.Glu1485GlyfsTer22
NM_015425.5:c.4778_4779del NP_056240.2:p.Glu1593GlyfsTer22
NM_015425.6:c.4778_4779del MANE Select NP_056240.2:p.Glu1593GlyfsTer22
Search 100 bp 5'
Search 100 bp 3'