Canonical Allele Identifier: CA2578627874

Gene: POLR1C

Linked Data

• gnomAD v4: 6-43520730-GCAGGTGCTTCTCAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43520732_43520745del , CM000668.2:g.43520732_43520745del	GRCh38
NC_000006.11:g.43488470_43488483del , CM000668.1:g.43488470_43488483del	GRCh37
NC_000006.10:g.43596448_43596461del	NCBI36
NG_028283.1:g.8694_8707del
NG_028283.3:g.16031_16044del
NG_051658.1:g.60332_60345del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607635.2:c.763_776del	ENSP00000496683.1:p.Arg255TrpfsTer4
ENST00000642195.1:c.763_776del MANE Select	ENSP00000496044.1:p.Arg255TrpfsTer4
ENST00000643341.1:c.763_776del	ENSP00000496018.1:p.Arg255TrpfsTer4
ENST00000643799.1:c.656-200_656-187del	ENSP00000494529.1:n.656-200_656-187del
ENST00000645141.1:c.*374_*387del	ENSP00000496755.1:n.*374_*387del
ENST00000646188.1:c.598_611del	ENSP00000496001.1:p.Arg200TrpfsTer4
ENST00000646433.1:c.763_776del	ENSP00000494368.1:p.Arg255TrpfsTer4
ENST00000646700.1:c.763_776del	ENSP00000495521.1:p.Arg255TrpfsTer4
ENST00000304004.7:c.763_776del	ENSP00000307212.3:p.Arg255TrpfsTer4
ENST00000372344.6:c.656-200_656-187del	ENSP00000361419.2:n.656-200_656-187del
ENST00000372389.7:c.763_776del	ENSP00000361465.3:p.Arg255TrpfsTer4
ENST00000455605.2:n.1253_1266del
ENST00000481352.6:n.1135_1148del
NM_203290.2:c.763_776del	NP_976035.1:p.Arg255TrpfsTer4
XM_005249491.1:c.763_776del	XP_005249548.1:p.Arg255TrpfsTer4
XM_011515000.1:c.763_776del	XP_011513302.1:p.Arg255TrpfsTer4
NM_001318876.1:c.763_776del	NP_001305805.1:p.Arg255TrpfsTer4
NM_001363658.1:c.763_776del	NP_001350587.1:p.Arg255TrpfsTer4
NM_203290.3:c.763_776del	NP_976035.1:p.Arg255TrpfsTer4
NM_203290.4:c.763_776del MANE Select	NP_976035.1:p.Arg255TrpfsTer4
NM_001363658.2:c.763_776del	NP_001350587.1:p.Arg255TrpfsTer4
NM_001318876.2:c.763_776del	NP_001305805.1:p.Arg255TrpfsTer4