Canonical Allele Identifier: CA891844171
Gene: POLD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 566099
ClinVar RCV Id: RCV000685829

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50402505_50402506delinsCA , CM000681.2:g.50402505_50402506delinsCA GRCh38
NC_000019.9:g.50905762_50905763delinsCA , CM000681.1:g.50905762_50905763delinsCA GRCh37
NC_000019.8:g.55597574_55597575delinsCA NCBI36
NG_033800.1:g.23183_23184delinsCA , LRG_785:g.23183_23184delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000593887.2:c.810_811delinsCA ENSP00000472607.2:p.Gly271Arg
ENST00000600746.2:n.1001_1002delinsCA
ENST00000644560.2:c.810_811delinsCA ENSP00000495618.2:p.Gly271Arg
ENST00000687454.1:c.810_811delinsCA ENSP00000510052.1:p.Gly271Arg
ENST00000440232.7:c.810_811delinsCA MANE Select ENSP00000406046.1:p.Gly271Arg
ENST00000595904.6:c.810_811delinsCA ENSP00000472445.1:p.Gly271Arg
ENST00000599857.7:c.810_811delinsCA ENSP00000473052.1:p.Gly271Arg
ENST00000601098.6:c.810_811delinsCA ENSP00000472600.2:p.Gly271Arg
ENST00000613923.6:c.810_811delinsCA ENSP00000481858.2:p.Gly271Arg
ENST00000643407.1:c.810_811delinsCA ENSP00000496078.1:p.Gly271Arg
ENST00000440232.6:c.810_811delinsCA ENSP00000406046.1:p.Gly271Arg
ENST00000595904.5:c.810_811delinsCA ENSP00000472445.1:p.Gly271Arg
ENST00000599857.5:c.810_811delinsCA ENSP00000473052.1:p.Gly271Arg
ENST00000600746.1:n.915_916delinsCA
ENST00000600859.5:c.810_811delinsCA ENSP00000470726.1:p.Gly271Arg
ENST00000613923.4:c.810_811delinsCA ENSP00000481858.1:p.Gly271Arg
NM_001256849.1:c.810_811delinsCA , LRG_785t1:c.810_811delinsCA NP_001243778.1:p.Gly271Arg
NM_001308632.1:c.810_811delinsCA , LRG_785t2:c.810_811delinsCA NP_001295561.1:p.Gly271Arg
NM_002691.3:c.810_811delinsCA NP_002682.2:p.Gly271Arg
NR_046402.1:n.879_880delinsCA
XM_005259008.3:c.810_811delinsCA XP_005259065.1:p.Gly271Arg
XM_011527038.1:c.810_811delinsCA XP_011525340.1:p.Gly271Arg
XM_011527039.1:c.810_811delinsCA XP_011525341.1:p.Gly271Arg
XR_935835.1:n.912_913delinsCA
XM_005259008.4:c.810_811delinsCA XP_005259065.1:p.Gly271Arg
XM_017026881.1:c.810_811delinsCA XP_016882370.1:p.Gly271Arg
XM_017026882.2:c.810_811delinsCA XP_016882371.1:p.Gly271Arg
XR_935835.2:n.911_912delinsCA
NM_002691.4:c.810_811delinsCA MANE Select NP_002682.2:p.Gly271Arg
NR_046402.2:n.855_856delinsCA