Canonical Allele Identifier: CA633897317

Gene: POLD1

Linked Data

• ClinVar Variation Id: 2145410
• ClinVar RCV Id: RCV003065011
• dbSNP Id: rs1060501829
• gnomAD v2: 19-50905375-CGAGA-C
• gnomAD v4: 19-50402118-CGAGA-C
• MyVariant Identifiers: chr19:g.50905376_50905379del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50402122_50402125del , CM000681.2:g.50402122_50402125del	GRCh38
NC_000019.9:g.50905379_50905382del , CM000681.1:g.50905379_50905382del	GRCh37
NC_000019.8:g.55597191_55597194del	NCBI36
NG_033800.1:g.22800_22803del , LRG_785:g.22800_22803del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593887.2:c.587_589+1del
ENST00000600746.2:n.698_701del
ENST00000644560.2:c.587_589+1del
ENST00000687454.1:c.587_589+1del
ENST00000440232.7:c.587_589+1del
ENST00000595904.6:c.587_589+1del
ENST00000599857.7:c.587_589+1del
ENST00000601098.6:c.587_589+1del
ENST00000613923.6:c.587_589+1del
ENST00000643407.1:c.587_589+1del
ENST00000440232.6:c.587_589+1del
ENST00000595904.5:c.587_589+1del
ENST00000599857.5:c.587_589+1del
ENST00000600746.1:n.612_615del
ENST00000600859.5:c.587_589+1del
ENST00000601098.5:c.587_590del	ENSP00000472600.1:p.Glu196ValfsTer?
ENST00000613923.4:c.587_589+1del
NM_001256849.1:c.587_589+1del , LRG_785t1:c.587_589+1del
NM_001308632.1:c.587_589+1del , LRG_785t2:c.587_589+1del
NM_002691.3:c.587_589+1del
NR_046402.1:n.656_658+1del
XM_005259008.3:c.587_589+1del
XM_011527038.1:c.587_589+1del
XM_011527039.1:c.587_589+1del
XR_935835.1:n.689_691+1del
XM_005259008.4:c.587_589+1del
XM_017026881.1:c.587_589+1del
XM_017026882.2:c.587_589+1del
XR_935835.2:n.688_690+1del
NM_002691.4:c.587_589+1del
NR_046402.2:n.632_634+1del