Canonical Allele Identifier: CA2678869343

Gene: POLR1C

Linked Data

• gnomAD v4: 6-43520130-CCCCCATGCTGCTAAAGATTCCTCTGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43520136_43520161del , CM000668.2:g.43520136_43520161del	GRCh38
NC_000006.11:g.43487874_43487899del , CM000668.1:g.43487874_43487899del	GRCh37
NC_000006.10:g.43595852_43595877del	NCBI36
NG_028283.1:g.8098_8123del
NG_028283.3:g.15435_15460del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607635.2:c.453_478del	ENSP00000496683.1:p.His151GlnfsTer24
ENST00000642195.1:c.453_478del MANE Select	ENSP00000496044.1:p.His151GlnfsTer24
ENST00000643341.1:c.453_478del	ENSP00000496018.1:p.His151GlnfsTer24
ENST00000643799.1:c.453_478del	ENSP00000494529.1:p.His151GlnfsTer24
ENST00000645141.1:c.*64_*89del	ENSP00000496755.1:n.*64_*89del
ENST00000646188.1:c.288_313del	ENSP00000496001.1:p.His96GlnfsTer24
ENST00000646433.1:c.453_478del	ENSP00000494368.1:p.His151GlnfsTer24
ENST00000646700.1:c.453_478del	ENSP00000495521.1:p.His151GlnfsTer24
ENST00000304004.7:c.453_478del	ENSP00000307212.3:p.His151GlnfsTer24
ENST00000372344.6:c.453_478del	ENSP00000361419.2:p.His151GlnfsTer24
ENST00000372389.7:c.453_478del	ENSP00000361465.3:p.His151GlnfsTer24
ENST00000423780.1:c.381-139_381-114del
ENST00000428025.6:c.288_313del	ENSP00000395401.2:p.His96GlnfsTer?
ENST00000455605.2:n.657_682del
ENST00000481352.6:n.736_761del
ENST00000488601.6:n.692_717del
NM_203290.2:c.453_478del	NP_976035.1:p.His151GlnfsTer24
XM_005249491.1:c.453_478del	XP_005249548.1:p.His151GlnfsTer24
XM_011515000.1:c.453_478del	XP_011513302.1:p.His151GlnfsTer24
NM_001318876.1:c.453_478del	NP_001305805.1:p.His151GlnfsTer24
NM_001363658.1:c.453_478del	NP_001350587.1:p.His151GlnfsTer24
NM_203290.3:c.453_478del	NP_976035.1:p.His151GlnfsTer24
NM_203290.4:c.453_478del MANE Select	NP_976035.1:p.His151GlnfsTer24
NM_001363658.2:c.453_478del	NP_001350587.1:p.His151GlnfsTer24
NM_001318876.2:c.453_478del	NP_001305805.1:p.His151GlnfsTer24