Canonical Allele Identifier: CA2678870027

Gene: POLR1C

Linked Data

• gnomAD v4: 6-43520417-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43520419del , CM000668.2:g.43520419del	GRCh38
NC_000006.11:g.43488157del , CM000668.1:g.43488157del	GRCh37
NC_000006.10:g.43596135del	NCBI36
NG_028283.1:g.8381del
NG_028283.3:g.15718del
NG_051658.1:g.60658del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607635.2:c.647del	ENSP00000496683.1:p.Lys216ArgfsTer?
ENST00000642195.1:c.647del MANE Select	ENSP00000496044.1:p.Lys216ArgfsTer?
ENST00000643341.1:c.647del	ENSP00000496018.1:p.Lys216ArgfsTer?
ENST00000643799.1:c.647del	ENSP00000494529.1:p.Lys216ArgfsTer28
ENST00000645141.1:c.*258del	ENSP00000496755.1:n.*258del
ENST00000646188.1:c.482del	ENSP00000496001.1:p.Lys161ArgfsTer?
ENST00000646433.1:c.647del	ENSP00000494368.1:p.Lys216ArgfsTer?
ENST00000646700.1:c.647del	ENSP00000495521.1:p.Lys216ArgfsTer?
ENST00000304004.7:c.647del	ENSP00000307212.3:p.Lys216ArgfsTer?
ENST00000372344.6:c.647del	ENSP00000361419.2:p.Lys216ArgfsTer28
ENST00000372389.7:c.647del	ENSP00000361465.3:p.Lys216ArgfsTer?
ENST00000455605.2:n.940del
ENST00000481352.6:n.1019del
ENST00000488601.6:n.886del
NM_203290.2:c.647del	NP_976035.1:p.Lys216ArgfsTer?
XM_005249491.1:c.647del	XP_005249548.1:p.Lys216ArgfsTer?
XM_011515000.1:c.647del	XP_011513302.1:p.Lys216ArgfsTer?
NM_001318876.1:c.647del	NP_001305805.1:p.Lys216ArgfsTer?
NM_001363658.1:c.647del	NP_001350587.1:p.Lys216ArgfsTer?
NM_203290.3:c.647del	NP_976035.1:p.Lys216ArgfsTer?
NM_203290.4:c.647del MANE Select	NP_976035.1:p.Lys216ArgfsTer?
NM_001363658.2:c.647del	NP_001350587.1:p.Lys216ArgfsTer?
NM_001318876.2:c.647del	NP_001305805.1:p.Lys216ArgfsTer?