Canonical Allele Identifier: CA2586568885

Gene: POLD1

Linked Data

• gnomAD v4: 19-50402345-TACGAGGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50402346_50402352del , CM000681.2:g.50402346_50402352del	GRCh38
NC_000019.9:g.50905603_50905609del , CM000681.1:g.50905603_50905609del	GRCh37
NC_000019.8:g.55597415_55597421del	NCBI36
NG_033800.1:g.23024_23030del , LRG_785:g.23024_23030del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593887.2:c.731_737del	ENSP00000472607.2:p.Tyr244SerfsTer30
ENST00000600746.2:n.922_928del
ENST00000644560.2:c.731_737del	ENSP00000495618.2:p.Tyr244SerfsTer30
ENST00000687454.1:c.731_737del	ENSP00000510052.1:p.Tyr244SerfsTer30
ENST00000440232.7:c.731_737del MANE Select	ENSP00000406046.1:p.Tyr244SerfsTer30
ENST00000595904.6:c.731_737del	ENSP00000472445.1:p.Tyr244SerfsTer30
ENST00000599857.7:c.731_737del	ENSP00000473052.1:p.Tyr244SerfsTer30
ENST00000601098.6:c.731_737del	ENSP00000472600.2:p.Tyr244SerfsTer30
ENST00000613923.6:c.731_737del	ENSP00000481858.2:p.Tyr244SerfsTer30
ENST00000643407.1:c.731_737del	ENSP00000496078.1:p.Tyr244SerfsTer30
ENST00000440232.6:c.731_737del	ENSP00000406046.1:p.Tyr244SerfsTer30
ENST00000595904.5:c.731_737del	ENSP00000472445.1:p.Tyr244SerfsTer30
ENST00000599857.5:c.731_737del	ENSP00000473052.1:p.Tyr244SerfsTer30
ENST00000600746.1:n.836_842del
ENST00000600859.5:c.731_737del	ENSP00000470726.1:p.Tyr244SerfsTer30
ENST00000613923.4:c.731_737del	ENSP00000481858.1:p.Tyr244SerfsTer30
NM_001256849.1:c.731_737del , LRG_785t1:c.731_737del	NP_001243778.1:p.Tyr244SerfsTer30
NM_001308632.1:c.731_737del , LRG_785t2:c.731_737del	NP_001295561.1:p.Tyr244SerfsTer30
NM_002691.3:c.731_737del	NP_002682.2:p.Tyr244SerfsTer30
NR_046402.1:n.800_806del
XM_005259008.3:c.731_737del	XP_005259065.1:p.Tyr244SerfsTer30
XM_011527038.1:c.731_737del	XP_011525340.1:p.Tyr244SerfsTer30
XM_011527039.1:c.731_737del	XP_011525341.1:p.Tyr244SerfsTer30
XR_935835.1:n.833_839del
XM_005259008.4:c.731_737del	XP_005259065.1:p.Tyr244SerfsTer30
XM_017026881.1:c.731_737del	XP_016882370.1:p.Tyr244SerfsTer30
XM_017026882.2:c.731_737del	XP_016882371.1:p.Tyr244SerfsTer30
XR_935835.2:n.832_838del
NM_002691.4:c.731_737del MANE Select	NP_002682.2:p.Tyr244SerfsTer30
NR_046402.2:n.776_782del