Canonical Allele Identifier: CA16044224
Gene: POLR1C HGNC NCBI

Linked Data

ClinVar Variation Id: 375403
ClinVar RCV Id: RCV000416417
dbSNP Id: rs1057519456
gnomAD v4: 6-43520384-TG-T
MyVariant Identifiers: chr6:g.43488124del (hg19) chr6:g.43520386del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43520386del , CM000668.2:g.43520386del GRCh38
NC_000006.11:g.43488124del , CM000668.1:g.43488124del GRCh37
NC_000006.10:g.43596102del NCBI36
NG_028283.1:g.8348del
NG_028283.3:g.15685del
NG_051658.1:g.60691del

Transcript Alleles

HGVS Amino-acid change
ENST00000607635.2:c.614del ENSP00000496683.1:p.Gly205AlafsTer?
ENST00000642195.1:c.614del MANE Select ENSP00000496044.1:p.Gly205AlafsTer?
ENST00000643341.1:c.614del ENSP00000496018.1:p.Gly205AlafsTer?
ENST00000643799.1:c.614del ENSP00000494529.1:p.Gly205AlafsTer?
ENST00000645141.1:c.*225del ENSP00000496755.1:n.*225del
ENST00000646188.1:c.449del ENSP00000496001.1:p.Gly150AlafsTer?
ENST00000646433.1:c.614del ENSP00000494368.1:p.Gly205AlafsTer?
ENST00000646700.1:c.614del ENSP00000495521.1:p.Gly205AlafsTer?
ENST00000304004.7:c.614del ENSP00000307212.3:p.Gly205AlafsTer?
ENST00000372344.6:c.614del ENSP00000361419.2:p.Gly205AlafsTer?
ENST00000372389.7:c.614del ENSP00000361465.3:p.Gly205AlafsTer?
ENST00000455605.2:n.907del
ENST00000481352.6:n.986del
ENST00000488601.6:n.853del
NM_203290.2:c.614del NP_976035.1:p.Gly205AlafsTer?
XM_005249491.1:c.614del XP_005249548.1:p.Gly205AlafsTer?
XM_011515000.1:c.614del XP_011513302.1:p.Gly205AlafsTer?
NM_001318876.1:c.614del NP_001305805.1:p.Gly205AlafsTer?
NM_001363658.1:c.614del NP_001350587.1:p.Gly205AlafsTer?
NM_203290.3:c.614del NP_976035.1:p.Gly205AlafsTer?
NM_203290.4:c.614del MANE Select NP_976035.1:p.Gly205AlafsTer?
NM_001363658.2:c.614del NP_001350587.1:p.Gly205AlafsTer?
NM_001318876.2:c.614del NP_001305805.1:p.Gly205AlafsTer?
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