Canonical Allele Identifier: CA2580097651
Gene: POLD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2170593
ClinVar RCV Id: RCV003080614

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50407314_50407316del , CM000681.2:g.50407314_50407316del GRCh38
NC_000019.9:g.50910571_50910573del , CM000681.1:g.50910571_50910573del GRCh37
NC_000019.8:g.55602383_55602385del NCBI36
NG_033800.1:g.27992_27994del , LRG_785:g.27992_27994del

Transcript Alleles

HGVS Amino-acid Change
ENST00000593887.2:c.1687-13_1687-11del ENSP00000472607.2:n.1687-13_1687-11del
ENST00000600746.2:n.1878-13_1878-11del
ENST00000644560.2:c.1687-13_1687-11del ENSP00000495618.2:n.1687-13_1687-11del
ENST00000687454.1:c.1687-13_1687-11del ENSP00000510052.1:n.1687-13_1687-11del
ENST00000440232.7:c.1687-13_1687-11del MANE Select ENSP00000406046.1:n.1687-13_1687-11del
ENST00000595904.6:c.1687-13_1687-11del ENSP00000472445.1:n.1687-13_1687-11del
ENST00000599857.7:c.1687-13_1687-11del ENSP00000473052.1:n.1687-13_1687-11del
ENST00000601098.6:c.1687-13_1687-11del ENSP00000472600.2:n.1687-13_1687-11del
ENST00000613923.6:c.1687-13_1687-11del ENSP00000481858.2:n.1687-13_1687-11del
ENST00000643407.1:c.1687-13_1687-11del ENSP00000496078.1:n.1687-13_1687-11del
ENST00000644560.1:c.558-13_558-11del
ENST00000440232.6:c.1687-13_1687-11del ENSP00000406046.1:n.1687-13_1687-11del
ENST00000595904.5:c.1687-13_1687-11del ENSP00000472445.1:n.1687-13_1687-11del
ENST00000596425.1:c.92-13_92-11del
ENST00000599857.5:c.1687-13_1687-11del ENSP00000473052.1:n.1687-13_1687-11del
ENST00000600859.5:c.1687-13_1687-11del ENSP00000470726.1:n.1687-13_1687-11del
ENST00000613923.4:c.1687-13_1687-11del ENSP00000481858.1:n.1687-13_1687-11del
NM_001256849.1:c.1687-13_1687-11del , LRG_785t1:c.1687-13_1687-11del NP_001243778.1:n.1687-13_1687-11del
NM_001308632.1:c.1687-13_1687-11del , LRG_785t2:c.1687-13_1687-11del NP_001295561.1:n.1687-13_1687-11del
NM_002691.3:c.1687-13_1687-11del NP_002682.2:n.1687-13_1687-11del
NR_046402.1:n.1756-13_1756-11del
XM_005259008.3:c.1687-13_1687-11del XP_005259065.1:n.1687-13_1687-11del
XM_011527038.1:c.1687-13_1687-11del XP_011525340.1:n.1687-13_1687-11del
XM_011527039.1:c.1687-13_1687-11del XP_011525341.1:n.1687-13_1687-11del
XR_935835.1:n.1789-13_1789-11del
XM_005259008.4:c.1687-13_1687-11del XP_005259065.1:n.1687-13_1687-11del
XM_017026881.1:c.1687-13_1687-11del XP_016882370.1:n.1687-13_1687-11del
XM_017026882.2:c.1687-13_1687-11del XP_016882371.1:n.1687-13_1687-11del
XR_935835.2:n.1788-13_1788-11del
NM_002691.4:c.1687-13_1687-11del MANE Select NP_002682.2:n.1687-13_1687-11del
NR_046402.2:n.1732-13_1732-11del