Canonical Allele Identifier: CA2697556667
Gene: POLD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2697031
ClinVar RCV Id: RCV003525510

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50402553_50402554delinsTT , CM000681.2:g.50402553_50402554delinsTT GRCh38
NC_000019.9:g.50905810_50905811delinsTT , CM000681.1:g.50905810_50905811delinsTT GRCh37
NC_000019.8:g.55597622_55597623delinsTT NCBI36
NG_033800.1:g.23231_23232delinsTT , LRG_785:g.23231_23232delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000593887.2:c.840+18_840+19delinsTT ENSP00000472607.2:n.840+18_840+19delinsTT
ENST00000600746.2:n.1031+18_1031+19delinsTT
ENST00000644560.2:c.840+18_840+19delinsTT ENSP00000495618.2:n.840+18_840+19delinsTT
ENST00000687454.1:c.840+18_840+19delinsTT ENSP00000510052.1:n.840+18_840+19delinsTT
ENST00000440232.7:c.840+18_840+19delinsTT MANE Select ENSP00000406046.1:n.840+18_840+19delinsTT
ENST00000595904.6:c.840+18_840+19delinsTT ENSP00000472445.1:n.840+18_840+19delinsTT
ENST00000599857.7:c.840+18_840+19delinsTT ENSP00000473052.1:n.840+18_840+19delinsTT
ENST00000601098.6:c.840+18_840+19delinsTT ENSP00000472600.2:n.840+18_840+19delinsTT
ENST00000613923.6:c.840+18_840+19delinsTT ENSP00000481858.2:n.840+18_840+19delinsTT
ENST00000643407.1:c.840+18_840+19delinsTT ENSP00000496078.1:n.840+18_840+19delinsTT
ENST00000440232.6:c.840+18_840+19delinsTT ENSP00000406046.1:n.840+18_840+19delinsTT
ENST00000595904.5:c.840+18_840+19delinsTT ENSP00000472445.1:n.840+18_840+19delinsTT
ENST00000599857.5:c.840+18_840+19delinsTT ENSP00000473052.1:n.840+18_840+19delinsTT
ENST00000600746.1:n.945+18_945+19delinsTT
ENST00000600859.5:c.840+18_840+19delinsTT ENSP00000470726.1:n.840+18_840+19delinsTT
ENST00000613923.4:c.840+18_840+19delinsTT ENSP00000481858.1:n.840+18_840+19delinsTT
NM_001256849.1:c.840+18_840+19delinsTT , LRG_785t1:c.840+18_840+19delinsTT NP_001243778.1:n.840+18_840+19delinsTT
NM_001308632.1:c.840+18_840+19delinsTT , LRG_785t2:c.840+18_840+19delinsTT NP_001295561.1:n.840+18_840+19delinsTT
NM_002691.3:c.840+18_840+19delinsTT NP_002682.2:n.840+18_840+19delinsTT
NR_046402.1:n.909+18_909+19delinsTT
XM_005259008.3:c.840+18_840+19delinsTT XP_005259065.1:n.840+18_840+19delinsTT
XM_011527038.1:c.840+18_840+19delinsTT XP_011525340.1:n.840+18_840+19delinsTT
XM_011527039.1:c.840+18_840+19delinsTT XP_011525341.1:n.840+18_840+19delinsTT
XR_935835.1:n.942+18_942+19delinsTT
XM_005259008.4:c.840+18_840+19delinsTT XP_005259065.1:n.840+18_840+19delinsTT
XM_017026881.1:c.840+18_840+19delinsTT XP_016882370.1:n.840+18_840+19delinsTT
XM_017026882.2:c.840+18_840+19delinsTT XP_016882371.1:n.840+18_840+19delinsTT
XR_935835.2:n.941+18_941+19delinsTT
NM_002691.4:c.840+18_840+19delinsTT MANE Select NP_002682.2:n.840+18_840+19delinsTT
NR_046402.2:n.885+18_885+19delinsTT