Canonical Allele Identifier: CA2578628431

Gene: POLH POLR1C

Linked Data

• ClinVar Variation Id: 2756379
• ClinVar RCV Id: RCV003571750

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43583071dup , CM000668.2:g.43583071dup	GRCh38
NC_000006.11:g.43550808dup , CM000668.1:g.43550808dup	GRCh37
NC_000006.10:g.43658786dup	NCBI36
NG_009252.1:g.11931dup , LRG_470:g.11931dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372236.9:c.202dup (POLH) MANE Select	ENSP00000361310.4:p.Ala68GlyfsTer2
ENST00000372226.1:c.202dup (POLH)	ENSP00000361300.1:p.Ala68GlyfsTer2
ENST00000372236.8:c.202dup (POLH)	ENSP00000361310.4:p.Ala68GlyfsTer2
ENST00000443535.1:c.16dup (POLH)	ENSP00000405320.1:p.Ala6GlyfsTer2
NM_001291969.1:c.48dup (POLH)	NP_001278898.1:p.Leu17AlafsTer?
NM_001291970.1:c.202dup (POLH)	NP_001278899.1:p.Ala68GlyfsTer2
NM_006502.2:c.202dup , LRG_470t1:c.202dup (POLH)	NP_006493.1:p.Ala68GlyfsTer2
XM_005249186.2:c.16dup (POLH)	XP_005249243.1:p.Ala6GlyfsTer2
XM_011514698.1:c.48dup (POLH)	XP_011513000.1:p.Leu17AlafsTer?
XM_005249186.4:c.16dup (POLH)	XP_005249243.1:p.Ala6GlyfsTer2
XM_011514698.3:c.48dup (POLH)	XP_011513000.1:p.Leu17AlafsTer?
XM_024446466.1:c.-2802dup (POLH)	XP_024302234.1:n.-2802dup
XM_024446467.1:c.-418dup (POLH)	XP_024302235.1:n.-418dup
NM_001291969.2:c.48dup (POLH)	NP_001278898.1:p.Leu17AlafsTer?
NM_001291970.2:c.202dup (POLH)	NP_001278899.1:p.Ala68GlyfsTer2
NM_006502.3:c.202dup (POLH) MANE Select	NP_006493.1:p.Ala68GlyfsTer2
NM_001318876.2:c.945+53800dup (POLR1C)	NP_001305805.1:n.945+53800dup