Canonical Allele Identifier: CA2842066537
Gene: POLD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50408785dup , CM000681.2:g.50408785dup GRCh38
NC_000019.9:g.50912042dup , CM000681.1:g.50912042dup GRCh37
NC_000019.8:g.55603854dup NCBI36
NG_033800.1:g.29463dup , LRG_785:g.29463dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000593887.2:c.1776dup
ENST00000600746.2:n.1967dup
ENST00000644560.2:c.1854dup ENSP00000495618.2:p.Tyr619ValfsTer?
ENST00000687454.1:c.1776dup
ENST00000440232.7:c.1776dup
ENST00000595904.6:c.1854dup ENSP00000472445.1:p.Tyr619ValfsTer?
ENST00000599857.7:c.1776dup
ENST00000601098.6:c.1776dup
ENST00000613923.6:c.1776dup
ENST00000643407.1:c.1776dup
ENST00000644560.1:c.725dup
ENST00000440232.6:c.1776dup
ENST00000595904.5:c.1854dup ENSP00000472445.1:p.Tyr619ValfsTer?
ENST00000596425.1:c.181dup
ENST00000599857.5:c.1776dup
ENST00000600859.5:c.1776dup
ENST00000613923.4:c.1854dup ENSP00000481858.1:p.Tyr619ValfsTer?
NM_001256849.1:c.1776dup , LRG_785t1:c.1776dup
NM_001308632.1:c.1854dup , LRG_785t2:c.1854dup NP_001295561.1:p.Tyr619ValfsTer?
NM_002691.3:c.1776dup
NR_046402.1:n.1845dup
XM_005259008.3:c.1776dup
XM_011527038.1:c.1776dup
XM_011527039.1:c.1776dup
XR_935835.1:n.1878dup
XM_005259008.4:c.1776dup
XM_017026881.1:c.1776dup
XM_017026882.2:c.1776dup
XR_935835.2:n.1877dup
NM_002691.4:c.1776dup
NR_046402.2:n.1821dup