Canonical Allele Identifier: CA2573156545
Gene: POLD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1582580
ClinVar RCV Id: RCV002091116
dbSNP Id: rs2122241148

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50402138del , CM000681.2:g.50402138del GRCh38
NC_000019.9:g.50905395del , CM000681.1:g.50905395del GRCh37
NC_000019.8:g.55597207del NCBI36
NG_033800.1:g.22816del , LRG_785:g.22816del

Transcript Alleles

HGVS Amino-acid Change
ENST00000593887.2:c.589+14del ENSP00000472607.2:n.589+14del
ENST00000600746.2:n.714del
ENST00000644560.2:c.589+14del ENSP00000495618.2:n.589+14del
ENST00000687454.1:c.589+14del ENSP00000510052.1:n.589+14del
ENST00000440232.7:c.589+14del MANE Select ENSP00000406046.1:n.589+14del
ENST00000595904.6:c.589+14del ENSP00000472445.1:n.589+14del
ENST00000599857.7:c.589+14del ENSP00000473052.1:n.589+14del
ENST00000601098.6:c.589+14del ENSP00000472600.2:n.589+14del
ENST00000613923.6:c.589+14del ENSP00000481858.2:n.589+14del
ENST00000643407.1:c.589+14del ENSP00000496078.1:n.589+14del
ENST00000440232.6:c.589+14del ENSP00000406046.1:n.589+14del
ENST00000595904.5:c.589+14del ENSP00000472445.1:n.589+14del
ENST00000599857.5:c.589+14del ENSP00000473052.1:n.589+14del
ENST00000600746.1:n.628del
ENST00000600859.5:c.589+14del ENSP00000470726.1:n.589+14del
ENST00000601098.5:c.603del ENSP00000472600.1:p.Arg202GlyfsTer?
ENST00000613923.4:c.589+14del ENSP00000481858.1:n.589+14del
NM_001256849.1:c.589+14del , LRG_785t1:c.589+14del NP_001243778.1:n.589+14del
NM_001308632.1:c.589+14del , LRG_785t2:c.589+14del NP_001295561.1:n.589+14del
NM_002691.3:c.589+14del NP_002682.2:n.589+14del
NR_046402.1:n.658+14del
XM_005259008.3:c.589+14del XP_005259065.1:n.589+14del
XM_011527038.1:c.589+14del XP_011525340.1:n.589+14del
XM_011527039.1:c.589+14del XP_011525341.1:n.589+14del
XR_935835.1:n.691+14del
XM_005259008.4:c.589+14del XP_005259065.1:n.589+14del
XM_017026881.1:c.589+14del XP_016882370.1:n.589+14del
XM_017026882.2:c.589+14del XP_016882371.1:n.589+14del
XR_935835.2:n.690+14del
NM_002691.4:c.589+14del MANE Select NP_002682.2:n.589+14del
NR_046402.2:n.634+14del