Canonical Allele Identifier: CA2839815065
Gene: POLR2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7502693del , CM000679.2:g.7502693del GRCh38
NC_000017.10:g.7406012del , CM000679.1:g.7406012del GRCh37
NC_000017.9:g.7346736del NCBI36
NG_027747.1:g.23315del
NG_027747.2:g.23315del

Transcript Alleles

HGVS Amino-acid Change
ENST00000617998.6:n.3147del
ENST00000674977.2:c.2748del ENSP00000502190.2:p.Phe916LeufsTer24
ENST00000576114.1:n.214del
ENST00000617998.4:c.2748del ENSP00000480158.1:p.Phe916LeufsTer24
ENST00000621442.4:c.2748del ENSP00000483957.1:p.Phe916LeufsTer24
NM_000937.4:c.2748del NP_000928.1:p.Phe916LeufsTer24
NM_000937.5:c.2748del MANE Select NP_000928.1:p.Phe916LeufsTer24
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