Canonical Allele Identifier: CA2586568864

Gene: POLD1

Linked Data

• ClinVar Variation Id: 2748506
• ClinVar RCV Id: RCV003527518
• gnomAD v4: 19-50402124-AGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50402126_50402127del , CM000681.2:g.50402126_50402127del	GRCh38
NC_000019.9:g.50905383_50905384del , CM000681.1:g.50905383_50905384del	GRCh37
NC_000019.8:g.55597195_55597196del	NCBI36
NG_033800.1:g.22804_22805del , LRG_785:g.22804_22805del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593887.2:c.589+2_589+3del	ENSP00000472607.2:n.589+2_589+3del
ENST00000600746.2:n.702_703del
ENST00000644560.2:c.589+2_589+3del	ENSP00000495618.2:n.589+2_589+3del
ENST00000687454.1:c.589+2_589+3del	ENSP00000510052.1:n.589+2_589+3del
ENST00000440232.7:c.589+2_589+3del MANE Select	ENSP00000406046.1:n.589+2_589+3del
ENST00000595904.6:c.589+2_589+3del	ENSP00000472445.1:n.589+2_589+3del
ENST00000599857.7:c.589+2_589+3del	ENSP00000473052.1:n.589+2_589+3del
ENST00000601098.6:c.589+2_589+3del	ENSP00000472600.2:n.589+2_589+3del
ENST00000613923.6:c.589+2_589+3del	ENSP00000481858.2:n.589+2_589+3del
ENST00000643407.1:c.589+2_589+3del	ENSP00000496078.1:n.589+2_589+3del
ENST00000440232.6:c.589+2_589+3del	ENSP00000406046.1:n.589+2_589+3del
ENST00000595904.5:c.589+2_589+3del	ENSP00000472445.1:n.589+2_589+3del
ENST00000599857.5:c.589+2_589+3del	ENSP00000473052.1:n.589+2_589+3del
ENST00000600746.1:n.616_617del
ENST00000600859.5:c.589+2_589+3del	ENSP00000470726.1:n.589+2_589+3del
ENST00000601098.5:c.591_592del	ENSP00000472600.1:p.Ser197ArgfsTer?
ENST00000613923.4:c.589+2_589+3del	ENSP00000481858.1:n.589+2_589+3del
NM_001256849.1:c.589+2_589+3del , LRG_785t1:c.589+2_589+3del	NP_001243778.1:n.589+2_589+3del
NM_001308632.1:c.589+2_589+3del , LRG_785t2:c.589+2_589+3del	NP_001295561.1:n.589+2_589+3del
NM_002691.3:c.589+2_589+3del	NP_002682.2:n.589+2_589+3del
NR_046402.1:n.658+2_658+3del
XM_005259008.3:c.589+2_589+3del	XP_005259065.1:n.589+2_589+3del
XM_011527038.1:c.589+2_589+3del	XP_011525340.1:n.589+2_589+3del
XM_011527039.1:c.589+2_589+3del	XP_011525341.1:n.589+2_589+3del
XR_935835.1:n.691+2_691+3del
XM_005259008.4:c.589+2_589+3del	XP_005259065.1:n.589+2_589+3del
XM_017026881.1:c.589+2_589+3del	XP_016882370.1:n.589+2_589+3del
XM_017026882.2:c.589+2_589+3del	XP_016882371.1:n.589+2_589+3del
XR_935835.2:n.690+2_690+3del
NM_002691.4:c.589+2_589+3del MANE Select	NP_002682.2:n.589+2_589+3del
NR_046402.2:n.634+2_634+3del