Canonical Allele Identifier: CA2573156691
Gene: POLD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1443900
ClinVar RCV Id: RCV001981493
dbSNP Id: rs2122335774

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50406990del , CM000681.2:g.50406990del GRCh38
NC_000019.9:g.50910247del , CM000681.1:g.50910247del GRCh37
NC_000019.8:g.55602059del NCBI36
NG_033800.1:g.27668del , LRG_785:g.27668del

Transcript Alleles

HGVS Amino-acid Change
ENST00000593887.2:c.1502del ENSP00000472607.2:p.Asn501ThrfsTer13
ENST00000600746.2:n.1693del
ENST00000644560.2:c.1502del ENSP00000495618.2:p.Asn501ThrfsTer13
ENST00000687454.1:c.1502del ENSP00000510052.1:p.Asn501ThrfsTer13
ENST00000440232.7:c.1502del MANE Select ENSP00000406046.1:p.Asn501ThrfsTer13
ENST00000595904.6:c.1502del ENSP00000472445.1:p.Asn501ThrfsTer13
ENST00000599857.7:c.1502del ENSP00000473052.1:p.Asn501ThrfsTer13
ENST00000601098.6:c.1502del ENSP00000472600.2:p.Asn501ThrfsTer13
ENST00000613923.6:c.1502del ENSP00000481858.2:p.Asn501ThrfsTer13
ENST00000643407.1:c.1502del ENSP00000496078.1:p.Asn501ThrfsTer13
ENST00000644560.1:c.373del
ENST00000440232.6:c.1502del ENSP00000406046.1:p.Asn501ThrfsTer13
ENST00000595904.5:c.1502del ENSP00000472445.1:p.Asn501ThrfsTer13
ENST00000599857.5:c.1502del ENSP00000473052.1:p.Asn501ThrfsTer13
ENST00000600859.5:c.1502del ENSP00000470726.1:p.Asn501ThrfsTer13
ENST00000613923.4:c.1502del ENSP00000481858.1:p.Asn501ThrfsTer13
NM_001256849.1:c.1502del , LRG_785t1:c.1502del NP_001243778.1:p.Asn501ThrfsTer13
NM_001308632.1:c.1502del , LRG_785t2:c.1502del NP_001295561.1:p.Asn501ThrfsTer13
NM_002691.3:c.1502del NP_002682.2:p.Asn501ThrfsTer13
NR_046402.1:n.1571del
XM_005259008.3:c.1502del XP_005259065.1:p.Asn501ThrfsTer13
XM_011527038.1:c.1502del XP_011525340.1:p.Asn501ThrfsTer13
XM_011527039.1:c.1502del XP_011525341.1:p.Asn501ThrfsTer13
XR_935835.1:n.1604del
XM_005259008.4:c.1502del XP_005259065.1:p.Asn501ThrfsTer13
XM_017026881.1:c.1502del XP_016882370.1:p.Asn501ThrfsTer13
XM_017026882.2:c.1502del XP_016882371.1:p.Asn501ThrfsTer13
XR_935835.2:n.1603del
NM_002691.4:c.1502del MANE Select NP_002682.2:p.Asn501ThrfsTer13
NR_046402.2:n.1547del