Canonical Allele Identifier: CA920128463
Gene: POLD1 HGNC NCBI

Linked Data

dbSNP Id: rs1568628019

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50407147_50407148dup , CM000681.2:g.50407147_50407148dup GRCh38
NC_000019.9:g.50910404_50910405dup , CM000681.1:g.50910404_50910405dup GRCh37
NC_000019.8:g.55602216_55602217dup NCBI36
NG_033800.1:g.27825_27826dup , LRG_785:g.27825_27826dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000593887.2:c.1659_1660dup ENSP00000472607.2:p.Lys554ThrfsTer17
ENST00000600746.2:n.1850_1851dup
ENST00000644560.2:c.1659_1660dup ENSP00000495618.2:p.Lys554ThrfsTer17
ENST00000687454.1:c.1659_1660dup ENSP00000510052.1:p.Lys554ThrfsTer17
ENST00000440232.7:c.1659_1660dup MANE Select ENSP00000406046.1:p.Lys554ThrfsTer17
ENST00000595904.6:c.1659_1660dup ENSP00000472445.1:p.Lys554ThrfsTer17
ENST00000599857.7:c.1659_1660dup ENSP00000473052.1:p.Lys554ThrfsTer17
ENST00000601098.6:c.1659_1660dup ENSP00000472600.2:p.Lys554ThrfsTer17
ENST00000613923.6:c.1659_1660dup ENSP00000481858.2:p.Lys554ThrfsTer17
ENST00000643407.1:c.1659_1660dup ENSP00000496078.1:p.Lys554ThrfsTer17
ENST00000644560.1:c.530_531dup
ENST00000440232.6:c.1659_1660dup ENSP00000406046.1:p.Lys554ThrfsTer17
ENST00000595904.5:c.1659_1660dup ENSP00000472445.1:p.Lys554ThrfsTer17
ENST00000596425.1:c.64_65dup
ENST00000599857.5:c.1659_1660dup ENSP00000473052.1:p.Lys554ThrfsTer17
ENST00000600859.5:c.1659_1660dup ENSP00000470726.1:p.Lys554ThrfsTer17
ENST00000613923.4:c.1659_1660dup ENSP00000481858.1:p.Lys554ThrfsTer17
NM_001256849.1:c.1659_1660dup , LRG_785t1:c.1659_1660dup NP_001243778.1:p.Lys554ThrfsTer17
NM_001308632.1:c.1659_1660dup , LRG_785t2:c.1659_1660dup NP_001295561.1:p.Lys554ThrfsTer17
NM_002691.3:c.1659_1660dup NP_002682.2:p.Lys554ThrfsTer17
NR_046402.1:n.1728_1729dup
XM_005259008.3:c.1659_1660dup XP_005259065.1:p.Lys554ThrfsTer17
XM_011527038.1:c.1659_1660dup XP_011525340.1:p.Lys554ThrfsTer17
XM_011527039.1:c.1659_1660dup XP_011525341.1:p.Lys554ThrfsTer17
XR_935835.1:n.1761_1762dup
XM_005259008.4:c.1659_1660dup XP_005259065.1:p.Lys554ThrfsTer17
XM_017026881.1:c.1659_1660dup XP_016882370.1:p.Lys554ThrfsTer17
XM_017026882.2:c.1659_1660dup XP_016882371.1:p.Lys554ThrfsTer17
XR_935835.2:n.1760_1761dup
NM_002691.4:c.1659_1660dup MANE Select NP_002682.2:p.Lys554ThrfsTer17
NR_046402.2:n.1704_1705dup