Canonical Allele Identifier: CA2573156787

Gene: POLD1

Linked Data

• ClinVar Variation Id: 1568943
• ClinVar RCV Id: RCV002213165
• dbSNP Id: rs2122520630
• gnomAD v4: 19-50417827-T-TGCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50417828_50417833dup , CM000681.2:g.50417828_50417833dup	GRCh38
NC_000019.9:g.50921085_50921090dup , CM000681.1:g.50921085_50921090dup	GRCh37
NC_000019.8:g.55612897_55612902dup	NCBI36
NG_033800.1:g.38506_38511dup , LRG_785:g.38506_38511dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000593887.2:c.3219-14_3219-9dup	ENSP00000472607.2:n.3219-14_3219-9dup
ENST00000600746.2:n.3410-14_3410-9dup
ENST00000644560.2:c.3225-14_3225-9dup	ENSP00000495618.2:n.3225-14_3225-9dup
ENST00000687454.1:c.3219-14_3219-9dup	ENSP00000510052.1:n.3219-14_3219-9dup
ENST00000440232.7:c.3219-14_3219-9dup MANE Select	ENSP00000406046.1:n.3219-14_3219-9dup
ENST00000595904.6:c.3297-14_3297-9dup	ENSP00000472445.1:n.3297-14_3297-9dup
ENST00000599857.7:c.3219-14_3219-9dup	ENSP00000473052.1:n.3219-14_3219-9dup
ENST00000601098.6:c.3219-14_3219-9dup	ENSP00000472600.2:n.3219-14_3219-9dup
ENST00000613923.6:c.3147-14_3147-9dup	ENSP00000481858.2:n.3147-14_3147-9dup
ENST00000440232.6:c.3219-14_3219-9dup	ENSP00000406046.1:n.3219-14_3219-9dup
ENST00000593981.1:c.792-14_792-9dup
ENST00000595904.5:c.3297-14_3297-9dup	ENSP00000472445.1:n.3297-14_3297-9dup
ENST00000596221.1:n.244-14_244-9dup
ENST00000597963.5:n.563-14_563-9dup
ENST00000599632.1:c.426+559_426+564dup
ENST00000599857.5:c.3219-14_3219-9dup	ENSP00000473052.1:n.3219-14_3219-9dup
ENST00000600859.5:c.*86-14_*86-9dup	ENSP00000470726.1:n.*86-14_*86-9dup
ENST00000613923.4:c.3297-14_3297-9dup	ENSP00000481858.1:n.3297-14_3297-9dup
NM_001256849.1:c.3219-14_3219-9dup , LRG_785t1:c.3219-14_3219-9dup	NP_001243778.1:n.3219-14_3219-9dup
NM_001308632.1:c.3297-14_3297-9dup , LRG_785t2:c.3297-14_3297-9dup	NP_001295561.1:n.3297-14_3297-9dup
NM_002691.3:c.3219-14_3219-9dup	NP_002682.2:n.3219-14_3219-9dup
NR_046402.1:n.3185-14_3185-9dup
XM_005259008.3:c.3147-14_3147-9dup	XP_005259065.1:n.3147-14_3147-9dup
XM_011527038.1:c.3219-14_3219-9dup	XP_011525340.1:n.3219-14_3219-9dup
XM_011527039.1:c.3219-14_3219-9dup	XP_011525341.1:n.3219-14_3219-9dup
XM_005259008.4:c.3147-14_3147-9dup	XP_005259065.1:n.3147-14_3147-9dup
XM_017026881.1:c.3219-14_3219-9dup	XP_016882370.1:n.3219-14_3219-9dup
XM_017026882.2:c.3147-14_3147-9dup	XP_016882371.1:n.3147-14_3147-9dup
NM_002691.4:c.3219-14_3219-9dup MANE Select	NP_002682.2:n.3219-14_3219-9dup
NR_046402.2:n.3161-14_3161-9dup