Canonical Allele Identifier: CA2580074667

Gene: POLR1C

Linked Data

• ClinVar Variation Id: 2030125
• ClinVar RCV Id: RCV002881166
• gnomAD v4: 6-43520439-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43520440del , CM000668.2:g.43520440del	GRCh38
NC_000006.11:g.43488178del , CM000668.1:g.43488178del	GRCh37
NC_000006.10:g.43596156del	NCBI36
NG_028283.1:g.8402del
NG_028283.3:g.15739del
NG_051658.1:g.60636del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607635.2:c.655+13del	ENSP00000496683.1:n.655+13del
ENST00000642195.1:c.655+13del MANE Select	ENSP00000496044.1:n.655+13del
ENST00000643341.1:c.655+13del	ENSP00000496018.1:n.655+13del
ENST00000643799.1:c.655+13del	ENSP00000494529.1:n.655+13del
ENST00000645141.1:c.*266+13del	ENSP00000496755.1:n.*266+13del
ENST00000646188.1:c.490+13del	ENSP00000496001.1:n.490+13del
ENST00000646433.1:c.655+13del	ENSP00000494368.1:n.655+13del
ENST00000646700.1:c.655+13del	ENSP00000495521.1:n.655+13del
ENST00000304004.7:c.655+13del	ENSP00000307212.3:n.655+13del
ENST00000372344.6:c.655+13del	ENSP00000361419.2:n.655+13del
ENST00000372389.7:c.655+13del	ENSP00000361465.3:n.655+13del
ENST00000455605.2:n.961del
ENST00000481352.6:n.1027+13del
ENST00000488601.6:n.894+13del
NM_203290.2:c.655+13del	NP_976035.1:n.655+13del
XM_005249491.1:c.655+13del	XP_005249548.1:n.655+13del
XM_011515000.1:c.655+13del	XP_011513302.1:n.655+13del
NM_001318876.1:c.655+13del	NP_001305805.1:n.655+13del
NM_001363658.1:c.655+13del	NP_001350587.1:n.655+13del
NM_203290.3:c.655+13del	NP_976035.1:n.655+13del
NM_203290.4:c.655+13del MANE Select	NP_976035.1:n.655+13del
NM_001363658.2:c.655+13del	NP_001350587.1:n.655+13del
NM_001318876.2:c.655+13del	NP_001305805.1:n.655+13del