Canonical Allele Identifier: CA2695229014
Gene: POLD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50409581_50409618del , CM000681.2:g.50409581_50409618del GRCh38
NC_000019.9:g.50912838_50912875del , CM000681.1:g.50912838_50912875del GRCh37
NC_000019.8:g.55604650_55604687del NCBI36
NG_033800.1:g.30259_30296del , LRG_785:g.30259_30296del

Transcript Alleles

HGVS Amino-acid Change
ENST00000593887.2:c.2069_2106del ENSP00000472607.2:p.Gln690LeufsTer?
ENST00000600746.2:n.2260_2297del
ENST00000644560.2:c.2147_2160+24del
ENST00000687454.1:c.2069_2106del ENSP00000510052.1:p.Gln690LeufsTer?
ENST00000440232.7:c.2069_2106del MANE Select ENSP00000406046.1:p.Gln690LeufsTer?
ENST00000595904.6:c.2147_2184del ENSP00000472445.1:p.Gln716LeufsTer?
ENST00000599857.7:c.2069_2106del ENSP00000473052.1:p.Gln690LeufsTer?
ENST00000601098.6:c.2069_2106del ENSP00000472600.2:p.Gln690LeufsTer?
ENST00000613923.6:c.2069_2082+24del
ENST00000643407.1:c.2069_2106del ENSP00000496078.1:p.Gln690LeufsTer?
ENST00000644560.1:c.1018_1031+24del
ENST00000440232.6:c.2069_2106del ENSP00000406046.1:p.Gln690LeufsTer?
ENST00000595904.5:c.2147_2184del ENSP00000472445.1:p.Gln716LeufsTer?
ENST00000596425.1:c.474_487+24del
ENST00000599857.5:c.2069_2106del ENSP00000473052.1:p.Gln690LeufsTer?
ENST00000600859.5:c.2069_2106del ENSP00000470726.1:p.Gln690LeufsTer?
ENST00000613923.4:c.2147_2184del ENSP00000481858.1:p.Gln716LeufsTer?
NM_001256849.1:c.2069_2106del , LRG_785t1:c.2069_2106del NP_001243778.1:p.Gln690LeufsTer?
NM_001308632.1:c.2147_2184del , LRG_785t2:c.2147_2184del NP_001295561.1:p.Gln716LeufsTer?
NM_002691.3:c.2069_2106del NP_002682.2:p.Gln690LeufsTer?
NR_046402.1:n.2138_2175del
XM_005259008.3:c.2069_2082+24del
XM_011527038.1:c.2069_2106del XP_011525340.1:p.Gln690LeufsTer?
XM_011527039.1:c.2069_2106del XP_011525341.1:p.Gln690LeufsTer?
XR_935835.1:n.2171_2208del
XM_005259008.4:c.2069_2082+24del
XM_017026881.1:c.2069_2106del XP_016882370.1:p.Gln690LeufsTer?
XM_017026882.2:c.2069_2082+24del
XR_935835.2:n.2170_2207del
NM_002691.4:c.2069_2106del MANE Select NP_002682.2:p.Gln690LeufsTer?
NR_046402.2:n.2114_2151del