Canonical Allele Identifier: CA2695229038
Gene: POLD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50402718_50402725delinsCCATCGCC , CM000681.2:g.50402718_50402725delinsCCATCGCC GRCh38
NC_000019.9:g.50905975_50905982delinsCCATCGCC , CM000681.1:g.50905975_50905982delinsCCATCGCC GRCh37
NC_000019.8:g.55597787_55597794delinsCCATCGCC NCBI36
NG_033800.1:g.23396_23403delinsCCATCGCC , LRG_785:g.23396_23403delinsCCATCGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000593887.2:c.947_954delinsCCATCGCC ENSP00000472607.2:p.Asp316_Glu318delinsAlaIleAla
ENST00000600746.2:n.1138_1145delinsCCATCGCC
ENST00000644560.2:c.947_954delinsCCATCGCC ENSP00000495618.2:p.Asp316_Glu318delinsAlaIleAla
ENST00000687454.1:c.947_954delinsCCATCGCC ENSP00000510052.1:p.Asp316_Glu318delinsAlaIleAla
ENST00000440232.7:c.947_954delinsCCATCGCC MANE Select ENSP00000406046.1:p.Asp316_Glu318delinsAlaIleAla
ENST00000595904.6:c.947_954delinsCCATCGCC ENSP00000472445.1:p.Asp316_Glu318delinsAlaIleAla
ENST00000599857.7:c.947_954delinsCCATCGCC ENSP00000473052.1:p.Asp316_Glu318delinsAlaIleAla
ENST00000601098.6:c.947_954delinsCCATCGCC ENSP00000472600.2:p.Asp316_Glu318delinsAlaIleAla
ENST00000613923.6:c.947_954delinsCCATCGCC ENSP00000481858.2:p.Asp316_Glu318delinsAlaIleAla
ENST00000643407.1:c.947_954delinsCCATCGCC ENSP00000496078.1:p.Asp316_Glu318delinsAlaIleAla
ENST00000440232.6:c.947_954delinsCCATCGCC ENSP00000406046.1:p.Asp316_Glu318delinsAlaIleAla
ENST00000595904.5:c.947_954delinsCCATCGCC ENSP00000472445.1:p.Asp316_Glu318delinsAlaIleAla
ENST00000599857.5:c.947_954delinsCCATCGCC ENSP00000473052.1:p.Asp316_Glu318delinsAlaIleAla
ENST00000600859.5:c.947_954delinsCCATCGCC ENSP00000470726.1:p.Asp316_Glu318delinsAlaIleAla
ENST00000613923.4:c.947_954delinsCCATCGCC ENSP00000481858.1:p.Asp316_Glu318delinsAlaIleAla
NM_001256849.1:c.947_954delinsCCATCGCC , LRG_785t1:c.947_954delinsCCATCGCC NP_001243778.1:p.Asp316_Glu318delinsAlaIleAla
NM_001308632.1:c.947_954delinsCCATCGCC , LRG_785t2:c.947_954delinsCCATCGCC NP_001295561.1:p.Asp316_Glu318delinsAlaIleAla
NM_002691.3:c.947_954delinsCCATCGCC NP_002682.2:p.Asp316_Glu318delinsAlaIleAla
NR_046402.1:n.1016_1023delinsCCATCGCC
XM_005259008.3:c.947_954delinsCCATCGCC XP_005259065.1:p.Asp316_Glu318delinsAlaIleAla
XM_011527038.1:c.947_954delinsCCATCGCC XP_011525340.1:p.Asp316_Glu318delinsAlaIleAla
XM_011527039.1:c.947_954delinsCCATCGCC XP_011525341.1:p.Asp316_Glu318delinsAlaIleAla
XR_935835.1:n.1049_1056delinsCCATCGCC
XM_005259008.4:c.947_954delinsCCATCGCC XP_005259065.1:p.Asp316_Glu318delinsAlaIleAla
XM_017026881.1:c.947_954delinsCCATCGCC XP_016882370.1:p.Asp316_Glu318delinsAlaIleAla
XM_017026882.2:c.947_954delinsCCATCGCC XP_016882371.1:p.Asp316_Glu318delinsAlaIleAla
XR_935835.2:n.1048_1055delinsCCATCGCC
NM_002691.4:c.947_954delinsCCATCGCC MANE Select NP_002682.2:p.Asp316_Glu318delinsAlaIleAla
NR_046402.2:n.992_999delinsCCATCGCC