Canonical Allele Identifier: CA1088395090

Gene: POLR1C

Linked Data

• dbSNP Id: rs1793116899
• gnomAD v3: 6-43520676-T-TGCCAGACATCACCCTGCTTGAGCCCGTGGAAGGGGAGGCAGCTGAGGAGTTGAGCAGGTGCTTCTCACCTGGTGTTATTGAGGTGCAG
• gnomAD v4: 6-43520676-T-TGCCAGACATCACCCTGCTTGAGCCCGTGGAAGGGGAGGCAGCTGAGGAGTTGAGCAGGTGCTTCTCACCTGGTGTTATTGAGGTGCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43520678_43520765dup , CM000668.2:g.43520678_43520765dup	GRCh38
NC_000006.11:g.43488416_43488503dup , CM000668.1:g.43488416_43488503dup	GRCh37
NC_000006.10:g.43596394_43596481dup	NCBI36
NG_028283.1:g.8640_8727dup
NG_028283.3:g.15977_16064dup
NG_051658.1:g.60312_60399dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607635.2:c.709_796dup	ENSP00000496683.1:p.Glu266AlafsTer7
ENST00000642195.1:c.709_796dup MANE Select	ENSP00000496044.1:p.Glu266AlafsTer7
ENST00000643341.1:c.709_796dup	ENSP00000496018.1:p.Glu266AlafsTer7
ENST00000643799.1:c.655+251_656-167dup	ENSP00000494529.1:n.655+251_656-167dup
ENST00000645141.1:c.*320_*407dup	ENSP00000496755.1:n.*320_*407dup
ENST00000646188.1:c.544_631dup	ENSP00000496001.1:p.Glu211AlafsTer7
ENST00000646433.1:c.709_796dup	ENSP00000494368.1:p.Glu266AlafsTer7
ENST00000646700.1:c.709_796dup	ENSP00000495521.1:p.Glu266AlafsTer7
ENST00000304004.7:c.709_796dup	ENSP00000307212.3:p.Glu266AlafsTer7
ENST00000372344.6:c.655+251_656-167dup	ENSP00000361419.2:n.655+251_656-167dup
ENST00000372389.7:c.709_796dup	ENSP00000361465.3:p.Glu266AlafsTer7
ENST00000455605.2:n.1199_1286dup
ENST00000481352.6:n.1081_1168dup
NM_203290.2:c.709_796dup	NP_976035.1:p.Glu266AlafsTer7
XM_005249491.1:c.709_796dup	XP_005249548.1:p.Glu266AlafsTer7
XM_011515000.1:c.709_796dup	XP_011513302.1:p.Glu266AlafsTer7
NM_001318876.1:c.709_796dup	NP_001305805.1:p.Glu266AlafsTer7
NM_001363658.1:c.709_796dup	NP_001350587.1:p.Glu266AlafsTer7
NM_203290.3:c.709_796dup	NP_976035.1:p.Glu266AlafsTer7
NM_203290.4:c.709_796dup MANE Select	NP_976035.1:p.Glu266AlafsTer7
NM_001363658.2:c.709_796dup	NP_001350587.1:p.Glu266AlafsTer7
NM_001318876.2:c.709_796dup	NP_001305805.1:p.Glu266AlafsTer7