Canonical Allele Identifier: CA2678870392

Gene: POLR1C

Linked Data

• gnomAD v4: 6-43520673-TCCTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43520676_43520679del , CM000668.2:g.43520676_43520679del	GRCh38
NC_000006.11:g.43488414_43488417del , CM000668.1:g.43488414_43488417del	GRCh37
NC_000006.10:g.43596392_43596395del	NCBI36
NG_028283.1:g.8638_8641del
NG_028283.3:g.15975_15978del
NG_051658.1:g.60399_60402del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607635.2:c.707_710del	ENSP00000496683.1:p.Leu236GlnfsTer17
ENST00000642195.1:c.707_710del MANE Select	ENSP00000496044.1:p.Leu236GlnfsTer17
ENST00000643341.1:c.707_710del	ENSP00000496018.1:p.Leu236GlnfsTer17
ENST00000643799.1:c.655+249_656-253del	ENSP00000494529.1:n.655+249_656-253del
ENST00000645141.1:c.*318_*321del	ENSP00000496755.1:n.*318_*321del
ENST00000646188.1:c.542_545del	ENSP00000496001.1:p.Leu181GlnfsTer17
ENST00000646433.1:c.707_710del	ENSP00000494368.1:p.Leu236GlnfsTer17
ENST00000646700.1:c.707_710del	ENSP00000495521.1:p.Leu236GlnfsTer17
ENST00000304004.7:c.707_710del	ENSP00000307212.3:p.Leu236GlnfsTer17
ENST00000372344.6:c.655+249_656-253del	ENSP00000361419.2:n.655+249_656-253del
ENST00000372389.7:c.707_710del	ENSP00000361465.3:p.Leu236GlnfsTer17
ENST00000455605.2:n.1197_1200del
ENST00000481352.6:n.1079_1082del
ENST00000488601.6:n.946_949del
NM_203290.2:c.707_710del	NP_976035.1:p.Leu236GlnfsTer17
XM_005249491.1:c.707_710del	XP_005249548.1:p.Leu236GlnfsTer17
XM_011515000.1:c.707_710del	XP_011513302.1:p.Leu236GlnfsTer17
NM_001318876.1:c.707_710del	NP_001305805.1:p.Leu236GlnfsTer17
NM_001363658.1:c.707_710del	NP_001350587.1:p.Leu236GlnfsTer17
NM_203290.3:c.707_710del	NP_976035.1:p.Leu236GlnfsTer17
NM_203290.4:c.707_710del MANE Select	NP_976035.1:p.Leu236GlnfsTer17
NM_001363658.2:c.707_710del	NP_001350587.1:p.Leu236GlnfsTer17
NM_001318876.2:c.707_710del	NP_001305805.1:p.Leu236GlnfsTer17