Canonical Allele Identifier: CA9595865

Gene: POLD1

Linked Data

• ClinVar Variation Id: 2093471
• ClinVar RCV Id: RCV003018744
• dbSNP Id: rs757320072
• ExAC: 19:50905571 G / GGC
• gnomAD v2: 19-50905571-G-GGC
• gnomAD v4: 19-50402314-G-GGC
• MyVariant Identifiers: chr19:g.50905571_50905572insGC (hg19) ; chr19:g.50402314_50402315insGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50402315_50402316dup , CM000681.2:g.50402315_50402316dup	GRCh38
NC_000019.9:g.50905572_50905573dup , CM000681.1:g.50905572_50905573dup	GRCh37
NC_000019.8:g.55597384_55597385dup	NCBI36
NG_033800.1:g.22993_22994dup , LRG_785:g.22993_22994dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593887.2:c.700_701dup	ENSP00000472607.2:p.Gly235GlnfsTer?
ENST00000600746.2:n.891_892dup
ENST00000644560.2:c.700_701dup	ENSP00000495618.2:p.Gly235GlnfsTer?
ENST00000687454.1:c.700_701dup	ENSP00000510052.1:p.Gly235GlnfsTer?
ENST00000440232.7:c.700_701dup MANE Select	ENSP00000406046.1:p.Gly235GlnfsTer?
ENST00000595904.6:c.700_701dup	ENSP00000472445.1:p.Gly235GlnfsTer?
ENST00000599857.7:c.700_701dup	ENSP00000473052.1:p.Gly235GlnfsTer?
ENST00000601098.6:c.700_701dup	ENSP00000472600.2:p.Gly235GlnfsTer?
ENST00000613923.6:c.700_701dup	ENSP00000481858.2:p.Gly235GlnfsTer?
ENST00000643407.1:c.700_701dup	ENSP00000496078.1:p.Gly235GlnfsTer?
ENST00000440232.6:c.700_701dup	ENSP00000406046.1:p.Gly235GlnfsTer?
ENST00000595904.5:c.700_701dup	ENSP00000472445.1:p.Gly235GlnfsTer?
ENST00000599857.5:c.700_701dup	ENSP00000473052.1:p.Gly235GlnfsTer?
ENST00000600746.1:n.805_806dup
ENST00000600859.5:c.700_701dup	ENSP00000470726.1:p.Gly235GlnfsTer?
ENST00000613923.4:c.700_701dup	ENSP00000481858.1:p.Gly235GlnfsTer?
NM_001256849.1:c.700_701dup , LRG_785t1:c.700_701dup	NP_001243778.1:p.Gly235GlnfsTer?
NM_001308632.1:c.700_701dup , LRG_785t2:c.700_701dup	NP_001295561.1:p.Gly235GlnfsTer?
NM_002691.3:c.700_701dup	NP_002682.2:p.Gly235GlnfsTer?
NR_046402.1:n.769_770dup
XM_005259008.3:c.700_701dup	XP_005259065.1:p.Gly235GlnfsTer?
XM_011527038.1:c.700_701dup	XP_011525340.1:p.Gly235GlnfsTer?
XM_011527039.1:c.700_701dup	XP_011525341.1:p.Gly235GlnfsTer?
XR_935835.1:n.802_803dup
XM_005259008.4:c.700_701dup	XP_005259065.1:p.Gly235GlnfsTer?
XM_017026881.1:c.700_701dup	XP_016882370.1:p.Gly235GlnfsTer?
XM_017026882.2:c.700_701dup	XP_016882371.1:p.Gly235GlnfsTer?
XR_935835.2:n.801_802dup
NM_002691.4:c.700_701dup MANE Select	NP_002682.2:p.Gly235GlnfsTer?
NR_046402.2:n.745_746dup