Canonical Allele Identifier: CA51332298
Community Standard Title: NM_015425.6(POLR1A):c.3357+204_3357+205del
Gene: POLR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86042769_86042770del , CM000664.2:g.86042769_86042770del GRCh38
NC_000002.11:g.86269892_86269893del , CM000664.1:g.86269892_86269893del GRCh37
NC_000002.10:g.86123403_86123404del NCBI36
NG_050742.2:g.68386_68387del

Transcript Alleles

HGVS Amino-acid Change
NM_015425.6:c.3357+204_3357+205del MANE Select NP_056240.2:n.3357+204_3357+205del
ENST00000263857.11:c.3357+204_3357+205del MANE Select ENSP00000263857.6:n.3357+204_3357+205del
NM_015425.3:c.3357+204_3357+205del NP_056240.2:n.3357+204_3357+205del
NM_015425.5:c.3357+204_3357+205del NP_056240.2:n.3357+204_3357+205del
ENST00000263857.10:c.3357+204_3357+205del ENSP00000263857.6:n.3357+204_3357+205del
ENST00000409681.1:c.3357+204_3357+205del ENSP00000386300.1:n.3357+204_3357+205del
XM_006711983.2:c.3033+204_3033+205del XP_006712046.1:n.3033+204_3033+205del