Canonical Allele Identifier: CA2535323338
Gene: POLD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50401876_50401877insTTTTTAAT , CM000681.2:g.50401876_50401877insTTTTTAAT GRCh38
NC_000019.9:g.50905133_50905134insTTTTTAAT , CM000681.1:g.50905133_50905134insTTTTTAAT GRCh37
NC_000019.8:g.55596945_55596946insTTTTTAAT NCBI36
NG_033800.1:g.22554_22555insTTTTTAAT , LRG_785:g.22554_22555insTTTTTAAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000593887.2:c.415_416insTTTTTAAT ENSP00000472607.2:p.Cys139PhefsTer33
ENST00000600746.2:n.526_527insTTTTTAAT
ENST00000644560.2:c.415_416insTTTTTAAT ENSP00000495618.2:p.Cys139PhefsTer33
ENST00000687454.1:c.415_416insTTTTTAAT ENSP00000510052.1:p.Cys139PhefsTer33
ENST00000440232.7:c.415_416insTTTTTAAT MANE Select ENSP00000406046.1:p.Cys139PhefsTer33
ENST00000595904.6:c.415_416insTTTTTAAT ENSP00000472445.1:p.Cys139PhefsTer33
ENST00000599857.7:c.415_416insTTTTTAAT ENSP00000473052.1:p.Cys139PhefsTer33
ENST00000601098.6:c.415_416insTTTTTAAT ENSP00000472600.2:p.Cys139PhefsTer33
ENST00000613923.6:c.415_416insTTTTTAAT ENSP00000481858.2:p.Cys139PhefsTer33
ENST00000643407.1:c.415_416insTTTTTAAT ENSP00000496078.1:p.Cys139PhefsTer33
ENST00000440232.6:c.415_416insTTTTTAAT ENSP00000406046.1:p.Cys139PhefsTer33
ENST00000595904.5:c.415_416insTTTTTAAT ENSP00000472445.1:p.Cys139PhefsTer33
ENST00000599857.5:c.415_416insTTTTTAAT ENSP00000473052.1:p.Cys139PhefsTer33
ENST00000600746.1:n.440_441insTTTTTAAT
ENST00000600859.5:c.415_416insTTTTTAAT ENSP00000470726.1:p.Cys139PhefsTer33
ENST00000601098.5:c.415_416insTTTTTAAT ENSP00000472600.1:p.Cys139PhefsTer33
ENST00000613923.4:c.415_416insTTTTTAAT ENSP00000481858.1:p.Cys139PhefsTer33
NM_001256849.1:c.415_416insTTTTTAAT , LRG_785t1:c.415_416insTTTTTAAT NP_001243778.1:p.Cys139PhefsTer33
NM_001308632.1:c.415_416insTTTTTAAT , LRG_785t2:c.415_416insTTTTTAAT NP_001295561.1:p.Cys139PhefsTer33
NM_002691.3:c.415_416insTTTTTAAT NP_002682.2:p.Cys139PhefsTer33
NR_046402.1:n.484_485insTTTTTAAT
XM_005259008.3:c.415_416insTTTTTAAT XP_005259065.1:p.Cys139PhefsTer33
XM_011527038.1:c.415_416insTTTTTAAT XP_011525340.1:p.Cys139PhefsTer33
XM_011527039.1:c.415_416insTTTTTAAT XP_011525341.1:p.Cys139PhefsTer33
XR_935835.1:n.517_518insTTTTTAAT
XM_005259008.4:c.415_416insTTTTTAAT XP_005259065.1:p.Cys139PhefsTer33
XM_017026881.1:c.415_416insTTTTTAAT XP_016882370.1:p.Cys139PhefsTer33
XM_017026882.2:c.415_416insTTTTTAAT XP_016882371.1:p.Cys139PhefsTer33
XR_935835.2:n.516_517insTTTTTAAT
NM_002691.4:c.415_416insTTTTTAAT MANE Select NP_002682.2:p.Cys139PhefsTer33
NR_046402.2:n.460_461insTTTTTAAT