Canonical Allele Identifier: CA349001
Gene: POLD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 221053
dbSNP Id: rs796285537

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50401932_50401933delinsTT , CM000681.2:g.50401932_50401933delinsTT GRCh38
NC_000019.9:g.50905189_50905190delinsTT , CM000681.1:g.50905189_50905190delinsTT GRCh37
NC_000019.8:g.55597001_55597002delinsTT NCBI36
NG_033800.1:g.22610_22611delinsTT , LRG_785:g.22610_22611delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000593887.2:c.463+8_463+9delinsTT ENSP00000472607.2:n.463+8_463+9delinsTT
ENST00000600746.2:n.574+8_574+9delinsTT
ENST00000644560.2:c.463+8_463+9delinsTT ENSP00000495618.2:n.463+8_463+9delinsTT
ENST00000687454.1:c.463+8_463+9delinsTT ENSP00000510052.1:n.463+8_463+9delinsTT
ENST00000440232.7:c.463+8_463+9delinsTT MANE Select ENSP00000406046.1:n.463+8_463+9delinsTT
ENST00000595904.6:c.463+8_463+9delinsTT ENSP00000472445.1:n.463+8_463+9delinsTT
ENST00000599857.7:c.463+8_463+9delinsTT ENSP00000473052.1:n.463+8_463+9delinsTT
ENST00000601098.6:c.463+8_463+9delinsTT ENSP00000472600.2:n.463+8_463+9delinsTT
ENST00000613923.6:c.463+8_463+9delinsTT ENSP00000481858.2:n.463+8_463+9delinsTT
ENST00000643407.1:c.463+8_463+9delinsTT ENSP00000496078.1:n.463+8_463+9delinsTT
ENST00000440232.6:c.463+8_463+9delinsTT ENSP00000406046.1:n.463+8_463+9delinsTT
ENST00000595904.5:c.463+8_463+9delinsTT ENSP00000472445.1:n.463+8_463+9delinsTT
ENST00000599857.5:c.463+8_463+9delinsTT ENSP00000473052.1:n.463+8_463+9delinsTT
ENST00000600746.1:n.488+8_488+9delinsTT
ENST00000600859.5:c.463+8_463+9delinsTT ENSP00000470726.1:n.463+8_463+9delinsTT
ENST00000601098.5:c.463+8_463+9delinsTT ENSP00000472600.1:n.463+8_463+9delinsTT
ENST00000613923.4:c.463+8_463+9delinsTT ENSP00000481858.1:n.463+8_463+9delinsTT
NM_001256849.1:c.463+8_463+9delinsTT , LRG_785t1:c.463+8_463+9delinsTT NP_001243778.1:n.463+8_463+9delinsTT
NM_001308632.1:c.463+8_463+9delinsTT , LRG_785t2:c.463+8_463+9delinsTT NP_001295561.1:n.463+8_463+9delinsTT
NM_002691.3:c.463+8_463+9delinsTT NP_002682.2:n.463+8_463+9delinsTT
NR_046402.1:n.532+8_532+9delinsTT
XM_005259008.3:c.463+8_463+9delinsTT XP_005259065.1:n.463+8_463+9delinsTT
XM_011527038.1:c.463+8_463+9delinsTT XP_011525340.1:n.463+8_463+9delinsTT
XM_011527039.1:c.463+8_463+9delinsTT XP_011525341.1:n.463+8_463+9delinsTT
XR_935835.1:n.565+8_565+9delinsTT
XM_005259008.4:c.463+8_463+9delinsTT XP_005259065.1:n.463+8_463+9delinsTT
XM_017026881.1:c.463+8_463+9delinsTT XP_016882370.1:n.463+8_463+9delinsTT
XM_017026882.2:c.463+8_463+9delinsTT XP_016882371.1:n.463+8_463+9delinsTT
XR_935835.2:n.564+8_564+9delinsTT
NM_002691.4:c.463+8_463+9delinsTT MANE Select NP_002682.2:n.463+8_463+9delinsTT
NR_046402.2:n.508+8_508+9delinsTT