Canonical Allele Identifier: CA3825442
Gene: POLR1C HGNC NCBI

Linked Data

ClinVar Variation Id: 635146
ClinVar RCV Id: RCV000788026
dbSNP Id: rs770857344

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43520144_43520145del , CM000668.2:g.43520144_43520145del GRCh38
NC_000006.11:g.43487882_43487883del , CM000668.1:g.43487882_43487883del GRCh37
NC_000006.10:g.43595860_43595861del NCBI36
NG_028283.1:g.8106_8107del
NG_028283.3:g.15443_15444del

Transcript Alleles

HGVS Amino-acid Change
ENST00000607635.2:c.461_462del ENSP00000496683.1:p.Lys154ArgfsTer4
ENST00000642195.1:c.461_462del MANE Select ENSP00000496044.1:p.Lys154ArgfsTer4
ENST00000643341.1:c.461_462del ENSP00000496018.1:p.Lys154ArgfsTer4
ENST00000643799.1:c.461_462del ENSP00000494529.1:p.Lys154ArgfsTer4
ENST00000645141.1:c.*72_*73del ENSP00000496755.1:n.*72_*73del
ENST00000646188.1:c.296_297del ENSP00000496001.1:p.Lys99ArgfsTer4
ENST00000646433.1:c.461_462del ENSP00000494368.1:p.Lys154ArgfsTer4
ENST00000646700.1:c.461_462del ENSP00000495521.1:p.Lys154ArgfsTer4
ENST00000304004.7:c.461_462del ENSP00000307212.3:p.Lys154ArgfsTer4
ENST00000372344.6:c.461_462del ENSP00000361419.2:p.Lys154ArgfsTer4
ENST00000372389.7:c.461_462del ENSP00000361465.3:p.Lys154ArgfsTer4
ENST00000423780.1:c.381-131_381-130del
ENST00000428025.6:c.296_297del ENSP00000395401.2:p.Lys99ArgfsTer4
ENST00000455605.2:n.665_666del
ENST00000481352.6:n.744_745del
ENST00000488601.6:n.700_701del
NM_203290.2:c.461_462del NP_976035.1:p.Lys154ArgfsTer4
XM_005249491.1:c.461_462del XP_005249548.1:p.Lys154ArgfsTer4
XM_011515000.1:c.461_462del XP_011513302.1:p.Lys154ArgfsTer4
NM_001318876.1:c.461_462del NP_001305805.1:p.Lys154ArgfsTer4
NM_001363658.1:c.461_462del NP_001350587.1:p.Lys154ArgfsTer4
NM_203290.3:c.461_462del NP_976035.1:p.Lys154ArgfsTer4
NM_203290.4:c.461_462del MANE Select NP_976035.1:p.Lys154ArgfsTer4
NM_001363658.2:c.461_462del NP_001350587.1:p.Lys154ArgfsTer4
NM_001318876.2:c.461_462del NP_001305805.1:p.Lys154ArgfsTer4