Canonical Allele Identifier: CA2340882623

Gene: POLD1

Linked Data

• ClinVar Variation Id: 1047414
• ClinVar RCV Id: RCV001352121
• dbSNP Id: rs2038666402

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50402119_50402136del , CM000681.2:g.50402119_50402136del	GRCh38
NC_000019.9:g.50905376_50905393del , CM000681.1:g.50905376_50905393del	GRCh37
NC_000019.8:g.55597188_55597205del	NCBI36
NG_033800.1:g.22797_22814del , LRG_785:g.22797_22814del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593887.2:c.584_589+12del
ENST00000600746.2:n.695_712del
ENST00000644560.2:c.584_589+12del
ENST00000687454.1:c.584_589+12del
ENST00000440232.7:c.584_589+12del
ENST00000595904.6:c.584_589+12del
ENST00000599857.7:c.584_589+12del
ENST00000601098.6:c.584_589+12del
ENST00000613923.6:c.584_589+12del
ENST00000643407.1:c.584_589+12del
ENST00000440232.6:c.584_589+12del
ENST00000595904.5:c.584_589+12del
ENST00000599857.5:c.584_589+12del
ENST00000600746.1:n.609_626del
ENST00000600859.5:c.584_589+12del
ENST00000601098.5:c.584_601del	ENSP00000472600.1:p.Arg195_Ser200del
ENST00000613923.4:c.584_589+12del
NM_001256849.1:c.584_589+12del , LRG_785t1:c.584_589+12del
NM_001308632.1:c.584_589+12del , LRG_785t2:c.584_589+12del
NM_002691.3:c.584_589+12del
NR_046402.1:n.653_658+12del
XM_005259008.3:c.584_589+12del
XM_011527038.1:c.584_589+12del
XM_011527039.1:c.584_589+12del
XR_935835.1:n.686_691+12del
XM_005259008.4:c.584_589+12del
XM_017026881.1:c.584_589+12del
XM_017026882.2:c.584_589+12del
XR_935835.2:n.685_690+12del
NM_002691.4:c.584_589+12del
NR_046402.2:n.629_634+12del