Canonical Allele Identifier: CA2580097649

Gene: POLD1

Linked Data

• ClinVar Variation Id: 2131916
• ClinVar RCV Id: RCV003036487

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50402076_50402077delinsTT , CM000681.2:g.50402076_50402077delinsTT	GRCh38
NC_000019.9:g.50905333_50905334delinsTT , CM000681.1:g.50905333_50905334delinsTT	GRCh37
NC_000019.8:g.55597145_55597146delinsTT	NCBI36
NG_033800.1:g.22754_22755delinsTT , LRG_785:g.22754_22755delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593887.2:c.541_542delinsTT	ENSP00000472607.2:p.Glu181Leu
ENST00000600746.2:n.652_653delinsTT
ENST00000644560.2:c.541_542delinsTT	ENSP00000495618.2:p.Glu181Leu
ENST00000687454.1:c.541_542delinsTT	ENSP00000510052.1:p.Glu181Leu
ENST00000440232.7:c.541_542delinsTT MANE Select	ENSP00000406046.1:p.Glu181Leu
ENST00000595904.6:c.541_542delinsTT	ENSP00000472445.1:p.Glu181Leu
ENST00000599857.7:c.541_542delinsTT	ENSP00000473052.1:p.Glu181Leu
ENST00000601098.6:c.541_542delinsTT	ENSP00000472600.2:p.Glu181Leu
ENST00000613923.6:c.541_542delinsTT	ENSP00000481858.2:p.Glu181Leu
ENST00000643407.1:c.541_542delinsTT	ENSP00000496078.1:p.Glu181Leu
ENST00000440232.6:c.541_542delinsTT	ENSP00000406046.1:p.Glu181Leu
ENST00000595904.5:c.541_542delinsTT	ENSP00000472445.1:p.Glu181Leu
ENST00000599857.5:c.541_542delinsTT	ENSP00000473052.1:p.Glu181Leu
ENST00000600746.1:n.566_567delinsTT
ENST00000600859.5:c.541_542delinsTT	ENSP00000470726.1:p.Glu181Leu
ENST00000601098.5:c.541_542delinsTT	ENSP00000472600.1:p.Glu181Leu
ENST00000613923.4:c.541_542delinsTT	ENSP00000481858.1:p.Glu181Leu
NM_001256849.1:c.541_542delinsTT , LRG_785t1:c.541_542delinsTT	NP_001243778.1:p.Glu181Leu
NM_001308632.1:c.541_542delinsTT , LRG_785t2:c.541_542delinsTT	NP_001295561.1:p.Glu181Leu
NM_002691.3:c.541_542delinsTT	NP_002682.2:p.Glu181Leu
NR_046402.1:n.610_611delinsTT
XM_005259008.3:c.541_542delinsTT	XP_005259065.1:p.Glu181Leu
XM_011527038.1:c.541_542delinsTT	XP_011525340.1:p.Glu181Leu
XM_011527039.1:c.541_542delinsTT	XP_011525341.1:p.Glu181Leu
XR_935835.1:n.643_644delinsTT
XM_005259008.4:c.541_542delinsTT	XP_005259065.1:p.Glu181Leu
XM_017026881.1:c.541_542delinsTT	XP_016882370.1:p.Glu181Leu
XM_017026882.2:c.541_542delinsTT	XP_016882371.1:p.Glu181Leu
XR_935835.2:n.642_643delinsTT
NM_002691.4:c.541_542delinsTT MANE Select	NP_002682.2:p.Glu181Leu
NR_046402.2:n.586_587delinsTT