Canonical Allele Identifier: CA2340882450

Gene: POLD1

Linked Data

• ClinVar Variation Id: 2842682
• ClinVar RCV Id: RCV003641828
• dbSNP Id: rs2038648288

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50401858dup , CM000681.2:g.50401858dup	GRCh38
NC_000019.9:g.50905115dup , CM000681.1:g.50905115dup	GRCh37
NC_000019.8:g.55596927dup	NCBI36
NG_033800.1:g.22536dup , LRG_785:g.22536dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593887.2:c.397dup	ENSP00000472607.2:p.Glu133GlyfsTer?
ENST00000600746.2:n.508dup
ENST00000644560.2:c.397dup	ENSP00000495618.2:p.Glu133GlyfsTer?
ENST00000687454.1:c.397dup	ENSP00000510052.1:p.Glu133GlyfsTer?
ENST00000440232.7:c.397dup MANE Select	ENSP00000406046.1:p.Glu133GlyfsTer?
ENST00000595904.6:c.397dup	ENSP00000472445.1:p.Glu133GlyfsTer?
ENST00000599857.7:c.397dup	ENSP00000473052.1:p.Glu133GlyfsTer?
ENST00000601098.6:c.397dup	ENSP00000472600.2:p.Glu133GlyfsTer?
ENST00000613923.6:c.397dup	ENSP00000481858.2:p.Glu133GlyfsTer?
ENST00000643407.1:c.397dup	ENSP00000496078.1:p.Glu133GlyfsTer?
ENST00000440232.6:c.397dup	ENSP00000406046.1:p.Glu133GlyfsTer?
ENST00000595904.5:c.397dup	ENSP00000472445.1:p.Glu133GlyfsTer?
ENST00000599857.5:c.397dup	ENSP00000473052.1:p.Glu133GlyfsTer?
ENST00000600746.1:n.422dup
ENST00000600859.5:c.397dup	ENSP00000470726.1:p.Glu133GlyfsTer?
ENST00000601098.5:c.397dup	ENSP00000472600.1:p.Glu133GlyfsTer?
ENST00000613923.4:c.397dup	ENSP00000481858.1:p.Glu133GlyfsTer?
NM_001256849.1:c.397dup , LRG_785t1:c.397dup	NP_001243778.1:p.Glu133GlyfsTer?
NM_001308632.1:c.397dup , LRG_785t2:c.397dup	NP_001295561.1:p.Glu133GlyfsTer?
NM_002691.3:c.397dup	NP_002682.2:p.Glu133GlyfsTer?
NR_046402.1:n.466dup
XM_005259008.3:c.397dup	XP_005259065.1:p.Glu133GlyfsTer?
XM_011527038.1:c.397dup	XP_011525340.1:p.Glu133GlyfsTer?
XM_011527039.1:c.397dup	XP_011525341.1:p.Glu133GlyfsTer?
XR_935835.1:n.499dup
XM_005259008.4:c.397dup	XP_005259065.1:p.Glu133GlyfsTer?
XM_017026881.1:c.397dup	XP_016882370.1:p.Glu133GlyfsTer?
XM_017026882.2:c.397dup	XP_016882371.1:p.Glu133GlyfsTer?
XR_935835.2:n.498dup
NM_002691.4:c.397dup MANE Select	NP_002682.2:p.Glu133GlyfsTer?
NR_046402.2:n.442dup