Canonical Allele Identifier: CA916082473
Gene: POLD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 856978
ClinVar RCV Id: RCV001062561

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50406438_50408779del , CM000681.2:g.50406438_50408779del GRCh38
NC_000019.9:g.50909695_50912036del , CM000681.1:g.50909695_50912036del GRCh37
NC_000019.8:g.55601507_55603848del NCBI36
NG_033800.1:g.27116_29457del , LRG_785:g.27116_29457del

Transcript Alleles

HGVS Amino-acid Change
ENST00000593887.2:c.1415_1776-6del
ENST00000600746.2:n.1606_1967-6del
ENST00000644560.2:c.1415_1848del
ENST00000687454.1:c.1415_1776-6del
ENST00000440232.7:c.1415_1776-6del
ENST00000595904.6:c.1415_1848del
ENST00000599857.7:c.1415_1776-6del
ENST00000601098.6:c.1415_1776-6del
ENST00000613923.6:c.1415_1776-6del
ENST00000643407.1:c.1415_1776-6del
ENST00000644560.1:c.286_719del
ENST00000440232.6:c.1415_1776-6del
ENST00000595904.5:c.1415_1848del
ENST00000599857.5:c.1415_1776-6del
ENST00000600859.5:c.1415_1776-6del
ENST00000613923.4:c.1415_1848del
NM_001256849.1:c.1415_1776-6del , LRG_785t1:c.1415_1776-6del
NM_001308632.1:c.1415_1848del , LRG_785t2:c.1415_1848del
NM_002691.3:c.1415_1776-6del
NR_046402.1:n.1484_1845-6del
XM_005259008.3:c.1415_1776-6del
XM_011527038.1:c.1415_1776-6del
XM_011527039.1:c.1415_1776-6del
XR_935835.1:n.1517_1878-6del
XM_005259008.4:c.1415_1776-6del
XM_017026881.1:c.1415_1776-6del
XM_017026882.2:c.1415_1776-6del
XR_935835.2:n.1516_1877-6del
NM_002691.4:c.1415_1776-6del
NR_046402.2:n.1460_1821-6del