Canonical Allele Identifier: CA2580074665
Community Standard Title: NM_203290.4(POLR1C):c.87del (p.Gly31ValfsTer23)
Gene: POLR1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43517323del , CM000668.2:g.43517323del GRCh38
NC_000006.11:g.43485061del , CM000668.1:g.43485061del GRCh37
NC_000006.10:g.43593039del NCBI36
NG_028283.1:g.5285del
NG_028283.3:g.12622del

Transcript Alleles

HGVS Amino-acid Change
NM_203290.4:c.87del MANE Select NP_976035.1:p.Gly31ValfsTer23
ENST00000642195.1:c.87del MANE Select ENSP00000496044.1:p.Gly31ValfsTer23
NM_001318876.1:c.87del NP_001305805.1:p.Gly31ValfsTer23
NM_001318876.2:c.87del NP_001305805.1:p.Gly31ValfsTer23
NM_001363658.1:c.87del NP_001350587.1:p.Gly31ValfsTer23
NM_001363658.2:c.87del NP_001350587.1:p.Gly31ValfsTer23
NM_203290.2:c.87del NP_976035.1:p.Gly31ValfsTer23
NM_203290.3:c.87del NP_976035.1:p.Gly31ValfsTer23
ENST00000304004.7:c.87del ENSP00000307212.3:p.Gly31ValfsTer23
ENST00000372344.6:c.87del ENSP00000361419.2:p.Gly31ValfsTer23
ENST00000372389.7:c.87del ENSP00000361465.3:p.Gly31ValfsTer23
ENST00000423780.1:c.85del
ENST00000428025.6:c.-79del ENSP00000395401.2:n.-79del
ENST00000455605.2:n.64del
ENST00000481352.6:n.143del
ENST00000488601.6:n.99del
ENST00000512472.5:n.114del
ENST00000607635.2:c.87del ENSP00000496683.1:p.Gly31ValfsTer23
ENST00000643341.1:c.87del ENSP00000496018.1:p.Gly31ValfsTer23
ENST00000643799.1:c.87del ENSP00000494529.1:p.Gly31ValfsTer23
ENST00000645141.1:c.87del ENSP00000496755.1:p.Gly31ValfsTer23
ENST00000646188.1:c.-79del ENSP00000496001.1:n.-79del
ENST00000646433.1:c.87del ENSP00000494368.1:p.Gly31ValfsTer23
ENST00000646700.1:c.87del ENSP00000495521.1:p.Gly31ValfsTer23
XM_005249491.1:c.87del XP_005249548.1:p.Gly31ValfsTer23
XM_011515000.1:c.87del XP_011513302.1:p.Gly31ValfsTer23