Canonical Allele Identifier: CA2340882698
Gene: POLD1 HGNC NCBI

Linked Data

dbSNP Id: rs2038673429

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50402227_50402228del , CM000681.2:g.50402227_50402228del GRCh38
NC_000019.9:g.50905484_50905485del , CM000681.1:g.50905484_50905485del GRCh37
NC_000019.8:g.55597296_55597297del NCBI36
NG_033800.1:g.22905_22906del , LRG_785:g.22905_22906del

Transcript Alleles

HGVS Amino-acid Change
ENST00000593887.2:c.612_613del ENSP00000472607.2:p.His204GlnfsTer?
ENST00000600746.2:n.803_804del
ENST00000644560.2:c.612_613del ENSP00000495618.2:p.His204GlnfsTer?
ENST00000687454.1:c.612_613del ENSP00000510052.1:p.His204GlnfsTer?
ENST00000440232.7:c.612_613del MANE Select ENSP00000406046.1:p.His204GlnfsTer?
ENST00000595904.6:c.612_613del ENSP00000472445.1:p.His204GlnfsTer?
ENST00000599857.7:c.612_613del ENSP00000473052.1:p.His204GlnfsTer?
ENST00000601098.6:c.612_613del ENSP00000472600.2:p.His204GlnfsTer?
ENST00000613923.6:c.612_613del ENSP00000481858.2:p.His204GlnfsTer?
ENST00000643407.1:c.612_613del ENSP00000496078.1:p.His204GlnfsTer?
ENST00000440232.6:c.612_613del ENSP00000406046.1:p.His204GlnfsTer?
ENST00000595904.5:c.612_613del ENSP00000472445.1:p.His204GlnfsTer?
ENST00000599857.5:c.612_613del ENSP00000473052.1:p.His204GlnfsTer?
ENST00000600746.1:n.717_718del
ENST00000600859.5:c.612_613del ENSP00000470726.1:p.His204GlnfsTer?
ENST00000613923.4:c.612_613del ENSP00000481858.1:p.His204GlnfsTer?
NM_001256849.1:c.612_613del , LRG_785t1:c.612_613del NP_001243778.1:p.His204GlnfsTer?
NM_001308632.1:c.612_613del , LRG_785t2:c.612_613del NP_001295561.1:p.His204GlnfsTer?
NM_002691.3:c.612_613del NP_002682.2:p.His204GlnfsTer?
NR_046402.1:n.681_682del
XM_005259008.3:c.612_613del XP_005259065.1:p.His204GlnfsTer?
XM_011527038.1:c.612_613del XP_011525340.1:p.His204GlnfsTer?
XM_011527039.1:c.612_613del XP_011525341.1:p.His204GlnfsTer?
XR_935835.1:n.714_715del
XM_005259008.4:c.612_613del XP_005259065.1:p.His204GlnfsTer?
XM_017026881.1:c.612_613del XP_016882370.1:p.His204GlnfsTer?
XM_017026882.2:c.612_613del XP_016882371.1:p.His204GlnfsTer?
XR_935835.2:n.713_714del
NM_002691.4:c.612_613del MANE Select NP_002682.2:p.His204GlnfsTer?
NR_046402.2:n.657_658del