Canonical Allele Identifier: CA9595737

Gene: POLD1

Linked Data

• ClinVar Variation Id: 762243
• ClinVar RCV Id: RCV003526014
• dbSNP Id: rs754850382
• ExAC: 19:50905188 G / GT
• gnomAD v2: 19-50905188-G-GT
• gnomAD v3: 19-50401931-G-GT
• gnomAD v4: 19-50401931-G-GT
• MyVariant Identifiers: chr19:g.50905188_50905189insT (hg19) ; chr19:g.50401931_50401932insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50401931_50401932insT , CM000681.2:g.50401931_50401932insT	GRCh38
NC_000019.9:g.50905188_50905189insT , CM000681.1:g.50905188_50905189insT	GRCh37
NC_000019.8:g.55597000_55597001insT	NCBI36
NG_033800.1:g.22609_22610insT , LRG_785:g.22609_22610insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593887.2:c.463+7_463+8insT	ENSP00000472607.2:n.463+7_463+8insT
ENST00000600746.2:n.574+7_574+8insT
ENST00000644560.2:c.463+7_463+8insT	ENSP00000495618.2:n.463+7_463+8insT
ENST00000687454.1:c.463+7_463+8insT	ENSP00000510052.1:n.463+7_463+8insT
ENST00000440232.7:c.463+7_463+8insT MANE Select	ENSP00000406046.1:n.463+7_463+8insT
ENST00000595904.6:c.463+7_463+8insT	ENSP00000472445.1:n.463+7_463+8insT
ENST00000599857.7:c.463+7_463+8insT	ENSP00000473052.1:n.463+7_463+8insT
ENST00000601098.6:c.463+7_463+8insT	ENSP00000472600.2:n.463+7_463+8insT
ENST00000613923.6:c.463+7_463+8insT	ENSP00000481858.2:n.463+7_463+8insT
ENST00000643407.1:c.463+7_463+8insT	ENSP00000496078.1:n.463+7_463+8insT
ENST00000440232.6:c.463+7_463+8insT	ENSP00000406046.1:n.463+7_463+8insT
ENST00000595904.5:c.463+7_463+8insT	ENSP00000472445.1:n.463+7_463+8insT
ENST00000599857.5:c.463+7_463+8insT	ENSP00000473052.1:n.463+7_463+8insT
ENST00000600746.1:n.488+7_488+8insT
ENST00000600859.5:c.463+7_463+8insT	ENSP00000470726.1:n.463+7_463+8insT
ENST00000601098.5:c.463+7_463+8insT	ENSP00000472600.1:n.463+7_463+8insT
ENST00000613923.4:c.463+7_463+8insT	ENSP00000481858.1:n.463+7_463+8insT
NM_001256849.1:c.463+7_463+8insT , LRG_785t1:c.463+7_463+8insT	NP_001243778.1:n.463+7_463+8insT
NM_001308632.1:c.463+7_463+8insT , LRG_785t2:c.463+7_463+8insT	NP_001295561.1:n.463+7_463+8insT
NM_002691.3:c.463+7_463+8insT	NP_002682.2:n.463+7_463+8insT
NR_046402.1:n.532+7_532+8insT
XM_005259008.3:c.463+7_463+8insT	XP_005259065.1:n.463+7_463+8insT
XM_011527038.1:c.463+7_463+8insT	XP_011525340.1:n.463+7_463+8insT
XM_011527039.1:c.463+7_463+8insT	XP_011525341.1:n.463+7_463+8insT
XR_935835.1:n.565+7_565+8insT
XM_005259008.4:c.463+7_463+8insT	XP_005259065.1:n.463+7_463+8insT
XM_017026881.1:c.463+7_463+8insT	XP_016882370.1:n.463+7_463+8insT
XM_017026882.2:c.463+7_463+8insT	XP_016882371.1:n.463+7_463+8insT
XR_935835.2:n.564+7_564+8insT
NM_002691.4:c.463+7_463+8insT MANE Select	NP_002682.2:n.463+7_463+8insT
NR_046402.2:n.508+7_508+8insT