Canonical Allele Identifier: CA633897343

Gene: POLD1

Linked Data

• dbSNP Id: rs1174792220
• gnomAD v2: 19-50905724-A-ACGGACAT
• MyVariant Identifiers: chr19:g.50905724_50905725insCGGACAT (hg19) ; chr19:g.50402467_50402468insCGGACAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50402470_50402476dup , CM000681.2:g.50402470_50402476dup	GRCh38
NC_000019.9:g.50905727_50905733dup , CM000681.1:g.50905727_50905733dup	GRCh37
NC_000019.8:g.55597539_55597545dup	NCBI36
NG_033800.1:g.23148_23154dup , LRG_785:g.23148_23154dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593887.2:c.775_781dup	ENSP00000472607.2:p.Val261GlyfsTer?
ENST00000600746.2:n.966_972dup
ENST00000644560.2:c.775_781dup	ENSP00000495618.2:p.Val261GlyfsTer?
ENST00000687454.1:c.775_781dup	ENSP00000510052.1:p.Val261GlyfsTer?
ENST00000440232.7:c.775_781dup MANE Select	ENSP00000406046.1:p.Val261GlyfsTer?
ENST00000595904.6:c.775_781dup	ENSP00000472445.1:p.Val261GlyfsTer?
ENST00000599857.7:c.775_781dup	ENSP00000473052.1:p.Val261GlyfsTer?
ENST00000601098.6:c.775_781dup	ENSP00000472600.2:p.Val261GlyfsTer?
ENST00000613923.6:c.775_781dup	ENSP00000481858.2:p.Val261GlyfsTer?
ENST00000643407.1:c.775_781dup	ENSP00000496078.1:p.Val261GlyfsTer?
ENST00000440232.6:c.775_781dup	ENSP00000406046.1:p.Val261GlyfsTer?
ENST00000595904.5:c.775_781dup	ENSP00000472445.1:p.Val261GlyfsTer?
ENST00000599857.5:c.775_781dup	ENSP00000473052.1:p.Val261GlyfsTer?
ENST00000600746.1:n.880_886dup
ENST00000600859.5:c.775_781dup	ENSP00000470726.1:p.Val261GlyfsTer?
ENST00000613923.4:c.775_781dup	ENSP00000481858.1:p.Val261GlyfsTer?
NM_001256849.1:c.775_781dup , LRG_785t1:c.775_781dup	NP_001243778.1:p.Val261GlyfsTer?
NM_001308632.1:c.775_781dup , LRG_785t2:c.775_781dup	NP_001295561.1:p.Val261GlyfsTer?
NM_002691.3:c.775_781dup	NP_002682.2:p.Val261GlyfsTer?
NR_046402.1:n.844_850dup
XM_005259008.3:c.775_781dup	XP_005259065.1:p.Val261GlyfsTer?
XM_011527038.1:c.775_781dup	XP_011525340.1:p.Val261GlyfsTer?
XM_011527039.1:c.775_781dup	XP_011525341.1:p.Val261GlyfsTer?
XR_935835.1:n.877_883dup
XM_005259008.4:c.775_781dup	XP_005259065.1:p.Val261GlyfsTer?
XM_017026881.1:c.775_781dup	XP_016882370.1:p.Val261GlyfsTer?
XM_017026882.2:c.775_781dup	XP_016882371.1:p.Val261GlyfsTer?
XR_935835.2:n.876_882dup
NM_002691.4:c.775_781dup MANE Select	NP_002682.2:p.Val261GlyfsTer?
NR_046402.2:n.820_826dup