Canonical Allele Identifier: CA2586570464

Gene: POLD1

Linked Data

• gnomAD v4: 19-50408758-T-TCCCGG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50408761_50408765dup , CM000681.2:g.50408761_50408765dup	GRCh38
NC_000019.9:g.50912018_50912022dup , CM000681.1:g.50912018_50912022dup	GRCh37
NC_000019.8:g.55603830_55603834dup	NCBI36
NG_033800.1:g.29439_29443dup , LRG_785:g.29439_29443dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593887.2:c.1776-24_1776-20dup	ENSP00000472607.2:n.1776-24_1776-20dup
ENST00000600746.2:n.1967-24_1967-20dup
ENST00000644560.2:c.1830_1834dup	ENSP00000495618.2:p.Arg612ProfsTer28
ENST00000687454.1:c.1776-24_1776-20dup	ENSP00000510052.1:n.1776-24_1776-20dup
ENST00000440232.7:c.1776-24_1776-20dup MANE Select	ENSP00000406046.1:n.1776-24_1776-20dup
ENST00000595904.6:c.1830_1834dup	ENSP00000472445.1:p.Arg612ProfsTer28
ENST00000599857.7:c.1776-24_1776-20dup	ENSP00000473052.1:n.1776-24_1776-20dup
ENST00000601098.6:c.1776-24_1776-20dup	ENSP00000472600.2:n.1776-24_1776-20dup
ENST00000613923.6:c.1776-24_1776-20dup	ENSP00000481858.2:n.1776-24_1776-20dup
ENST00000643407.1:c.1776-24_1776-20dup	ENSP00000496078.1:n.1776-24_1776-20dup
ENST00000644560.1:c.701_705dup
ENST00000440232.6:c.1776-24_1776-20dup	ENSP00000406046.1:n.1776-24_1776-20dup
ENST00000595904.5:c.1830_1834dup	ENSP00000472445.1:p.Arg612ProfsTer28
ENST00000596425.1:c.181-24_181-20dup
ENST00000599857.5:c.1776-24_1776-20dup	ENSP00000473052.1:n.1776-24_1776-20dup
ENST00000600859.5:c.1776-24_1776-20dup	ENSP00000470726.1:n.1776-24_1776-20dup
ENST00000613923.4:c.1830_1834dup	ENSP00000481858.1:p.Arg612ProfsTer28
NM_001256849.1:c.1776-24_1776-20dup , LRG_785t1:c.1776-24_1776-20dup	NP_001243778.1:n.1776-24_1776-20dup
NM_001308632.1:c.1830_1834dup , LRG_785t2:c.1830_1834dup	NP_001295561.1:p.Arg612ProfsTer28
NM_002691.3:c.1776-24_1776-20dup	NP_002682.2:n.1776-24_1776-20dup
NR_046402.1:n.1845-24_1845-20dup
XM_005259008.3:c.1776-24_1776-20dup	XP_005259065.1:n.1776-24_1776-20dup
XM_011527038.1:c.1776-24_1776-20dup	XP_011525340.1:n.1776-24_1776-20dup
XM_011527039.1:c.1776-24_1776-20dup	XP_011525341.1:n.1776-24_1776-20dup
XR_935835.1:n.1878-24_1878-20dup
XM_005259008.4:c.1776-24_1776-20dup	XP_005259065.1:n.1776-24_1776-20dup
XM_017026881.1:c.1776-24_1776-20dup	XP_016882370.1:n.1776-24_1776-20dup
XM_017026882.2:c.1776-24_1776-20dup	XP_016882371.1:n.1776-24_1776-20dup
XR_935835.2:n.1877-24_1877-20dup
NM_002691.4:c.1776-24_1776-20dup MANE Select	NP_002682.2:n.1776-24_1776-20dup
NR_046402.2:n.1821-24_1821-20dup