Canonical Allele Identifier: CA824930269

Gene: POLR1C

Linked Data

• ClinVar Variation Id: 635148
• ClinVar RCV Id: RCV000788029 ; RCV000850586
• dbSNP Id: rs1156407486
• gnomAD v3: 6-43520386-GC-G
• gnomAD v4: 6-43520386-GC-G
• MyVariant Identifiers: chr6:g.43488125del (hg19) ; chr6:g.43520387del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43520388del , CM000668.2:g.43520388del	GRCh38
NC_000006.11:g.43488126del , CM000668.1:g.43488126del	GRCh37
NC_000006.10:g.43596104del	NCBI36
NG_028283.1:g.8350del
NG_028283.3:g.15687del
NG_051658.1:g.60689del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607635.2:c.616del	ENSP00000496683.1:p.Gln206LysfsTer?
ENST00000642195.1:c.616del MANE Select	ENSP00000496044.1:p.Gln206LysfsTer?
ENST00000643341.1:c.616del	ENSP00000496018.1:p.Gln206LysfsTer?
ENST00000643799.1:c.616del	ENSP00000494529.1:p.Gln206LysfsTer?
ENST00000645141.1:c.*227del	ENSP00000496755.1:n.*227del
ENST00000646188.1:c.451del	ENSP00000496001.1:p.Gln151LysfsTer?
ENST00000646433.1:c.616del	ENSP00000494368.1:p.Gln206LysfsTer?
ENST00000646700.1:c.616del	ENSP00000495521.1:p.Gln206LysfsTer?
ENST00000304004.7:c.616del	ENSP00000307212.3:p.Gln206LysfsTer?
ENST00000372344.6:c.616del	ENSP00000361419.2:p.Gln206LysfsTer?
ENST00000372389.7:c.616del	ENSP00000361465.3:p.Gln206LysfsTer?
ENST00000455605.2:n.909del
ENST00000481352.6:n.988del
ENST00000488601.6:n.855del
NM_203290.2:c.616del	NP_976035.1:p.Gln206LysfsTer?
XM_005249491.1:c.616del	XP_005249548.1:p.Gln206LysfsTer?
XM_011515000.1:c.616del	XP_011513302.1:p.Gln206LysfsTer?
NM_001318876.1:c.616del	NP_001305805.1:p.Gln206LysfsTer?
NM_001363658.1:c.616del	NP_001350587.1:p.Gln206LysfsTer?
NM_203290.3:c.616del	NP_976035.1:p.Gln206LysfsTer?
NM_203290.4:c.616del MANE Select	NP_976035.1:p.Gln206LysfsTer?
NM_001363658.2:c.616del	NP_001350587.1:p.Gln206LysfsTer?
NM_001318876.2:c.616del	NP_001305805.1:p.Gln206LysfsTer?