Canonical Allele Identifier: CA16616342

Gene: POLD1

Linked Data

• ClinVar Variation Id: 408010
• ClinVar RCV Id: RCV000461519 ; RCV000507304 ; RCV001584152
• dbSNP Id: rs1060501821

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50402669_50402670delinsTT , CM000681.2:g.50402669_50402670delinsTT	GRCh38
NC_000019.9:g.50905926_50905927delinsTT , CM000681.1:g.50905926_50905927delinsTT	GRCh37
NC_000019.8:g.55597738_55597739delinsTT	NCBI36
NG_033800.1:g.23347_23348delinsTT , LRG_785:g.23347_23348delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593887.2:c.898_899delinsTT	ENSP00000472607.2:p.Pro300Leu
ENST00000600746.2:n.1089_1090delinsTT
ENST00000644560.2:c.898_899delinsTT	ENSP00000495618.2:p.Pro300Leu
ENST00000687454.1:c.898_899delinsTT	ENSP00000510052.1:p.Pro300Leu
ENST00000440232.7:c.898_899delinsTT MANE Select	ENSP00000406046.1:p.Pro300Leu
ENST00000595904.6:c.898_899delinsTT	ENSP00000472445.1:p.Pro300Leu
ENST00000599857.7:c.898_899delinsTT	ENSP00000473052.1:p.Pro300Leu
ENST00000601098.6:c.898_899delinsTT	ENSP00000472600.2:p.Pro300Leu
ENST00000613923.6:c.898_899delinsTT	ENSP00000481858.2:p.Pro300Leu
ENST00000643407.1:c.898_899delinsTT	ENSP00000496078.1:p.Pro300Leu
ENST00000440232.6:c.898_899delinsTT	ENSP00000406046.1:p.Pro300Leu
ENST00000595904.5:c.898_899delinsTT	ENSP00000472445.1:p.Pro300Leu
ENST00000599857.5:c.898_899delinsTT	ENSP00000473052.1:p.Pro300Leu
ENST00000600859.5:c.898_899delinsTT	ENSP00000470726.1:p.Pro300Leu
ENST00000613923.4:c.898_899delinsTT	ENSP00000481858.1:p.Pro300Leu
NM_001256849.1:c.898_899delinsTT , LRG_785t1:c.898_899delinsTT	NP_001243778.1:p.Pro300Leu
NM_001308632.1:c.898_899delinsTT , LRG_785t2:c.898_899delinsTT	NP_001295561.1:p.Pro300Leu
NM_002691.3:c.898_899delinsTT	NP_002682.2:p.Pro300Leu
NR_046402.1:n.967_968delinsTT
XM_005259008.3:c.898_899delinsTT	XP_005259065.1:p.Pro300Leu
XM_011527038.1:c.898_899delinsTT	XP_011525340.1:p.Pro300Leu
XM_011527039.1:c.898_899delinsTT	XP_011525341.1:p.Pro300Leu
XR_935835.1:n.1000_1001delinsTT
XM_005259008.4:c.898_899delinsTT	XP_005259065.1:p.Pro300Leu
XM_017026881.1:c.898_899delinsTT	XP_016882370.1:p.Pro300Leu
XM_017026882.2:c.898_899delinsTT	XP_016882371.1:p.Pro300Leu
XR_935835.2:n.999_1000delinsTT
NM_002691.4:c.898_899delinsTT MANE Select	NP_002682.2:p.Pro300Leu
NR_046402.2:n.943_944delinsTT