Canonical Allele Identifier: CA3825608
Gene: POLR1C HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43521009_43521011del , CM000668.2:g.43521009_43521011del GRCh38
NC_000006.11:g.43488747_43488749del , CM000668.1:g.43488747_43488749del GRCh37
NC_000006.10:g.43596725_43596727del NCBI36
NG_028283.1:g.8971_8973del
NG_028283.3:g.16308_16310del
NG_051658.1:g.60068_60070del

Transcript Alleles

HGVS Amino-acid Change
ENST00000607635.2:c.883_885del ENSP00000496683.1:p.Lys295del
ENST00000642195.1:c.883_885del MANE Select ENSP00000496044.1:p.Lys295del
ENST00000643341.1:c.883_885del ENSP00000496018.1:p.Lys295del
ENST00000643799.1:c.733_735del ENSP00000494529.1:p.Lys245del
ENST00000645141.1:c.*494_*496del ENSP00000496755.1:n.*494_*496del
ENST00000646188.1:c.718_720del ENSP00000496001.1:p.Lys240del
ENST00000646433.1:c.883_885del ENSP00000494368.1:p.Lys295del
ENST00000646700.1:c.883_885del ENSP00000495521.1:p.Lys295del
ENST00000304004.7:c.883_885del ENSP00000307212.3:p.Lys295del
ENST00000372344.6:c.733_735del ENSP00000361419.2:p.Lys245del
ENST00000372389.7:c.883_885del ENSP00000361465.3:p.Lys295del
ENST00000455605.2:n.1530_1532del
ENST00000481352.6:n.1255_1257del
NM_203290.2:c.883_885del NP_976035.1:p.Lys295del
XM_005249491.1:c.883_885del XP_005249548.1:p.Lys295del
XM_011515000.1:c.883_885del XP_011513302.1:p.Lys295del
NM_001318876.1:c.883_885del NP_001305805.1:p.Lys295del
NM_001363658.1:c.883_885del NP_001350587.1:p.Lys295del
NM_203290.3:c.883_885del NP_976035.1:p.Lys295del
NM_203290.4:c.883_885del MANE Select NP_976035.1:p.Lys295del
NM_001363658.2:c.883_885del NP_001350587.1:p.Lys295del
NM_001318876.2:c.883_885del NP_001305805.1:p.Lys295del
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