Canonical Allele Identifier: CA2340886584

Gene: POLD1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50408897_50408899delinsCTG , CM000681.2:g.50408897_50408899delinsCTG	GRCh38
NC_000019.9:g.50912154_50912156delinsCTG , CM000681.1:g.50912154_50912156delinsCTG	GRCh37
NC_000019.8:g.55603966_55603968delinsCTG	NCBI36
NG_033800.1:g.29575_29577delinsCTG , LRG_785:g.29575_29577delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593887.2:c.1888_1890delinsCTG	ENSP00000472607.2:p.Leu630=
ENST00000600746.2:n.2079_2081delinsCTG
ENST00000644560.2:c.1966_1968delinsCTG	ENSP00000495618.2:p.Leu656=
ENST00000687454.1:c.1888_1890delinsCTG	ENSP00000510052.1:p.Leu630=
ENST00000440232.7:c.1888_1890delinsCTG MANE Select	ENSP00000406046.1:p.Leu630=
ENST00000595904.6:c.1966_1968delinsCTG	ENSP00000472445.1:p.Leu656=
ENST00000599857.7:c.1888_1890delinsCTG	ENSP00000473052.1:p.Leu630=
ENST00000601098.6:c.1888_1890delinsCTG	ENSP00000472600.2:p.Leu630=
ENST00000613923.6:c.1888_1890delinsCTG	ENSP00000481858.2:p.Leu630=
ENST00000643407.1:c.1888_1890delinsCTG	ENSP00000496078.1:p.Leu630=
ENST00000644560.1:c.837_839delinsCTG
ENST00000440232.6:c.1888_1890delinsCTG	ENSP00000406046.1:p.Leu630=
ENST00000595904.5:c.1966_1968delinsCTG	ENSP00000472445.1:p.Leu656=
ENST00000596425.1:c.293_295delinsCTG
ENST00000599857.5:c.1888_1890delinsCTG	ENSP00000473052.1:p.Leu630=
ENST00000600859.5:c.1888_1890delinsCTG	ENSP00000470726.1:p.Leu630=
ENST00000613923.4:c.1966_1968delinsCTG	ENSP00000481858.1:p.Leu656=
NM_001256849.1:c.1888_1890delinsCTG , LRG_785t1:c.1888_1890delinsCTG	NP_001243778.1:p.Leu630=
NM_001308632.1:c.1966_1968delinsCTG , LRG_785t2:c.1966_1968delinsCTG	NP_001295561.1:p.Leu656=
NM_002691.3:c.1888_1890delinsCTG	NP_002682.2:p.Leu630=
NR_046402.1:n.1957_1959delinsCTG
XM_005259008.3:c.1888_1890delinsCTG	XP_005259065.1:p.Leu630=
XM_011527038.1:c.1888_1890delinsCTG	XP_011525340.1:p.Leu630=
XM_011527039.1:c.1888_1890delinsCTG	XP_011525341.1:p.Leu630=
XR_935835.1:n.1990_1992delinsCTG
XM_005259008.4:c.1888_1890delinsCTG	XP_005259065.1:p.Leu630=
XM_017026881.1:c.1888_1890delinsCTG	XP_016882370.1:p.Leu630=
XM_017026882.2:c.1888_1890delinsCTG	XP_016882371.1:p.Leu630=
XR_935835.2:n.1989_1991delinsCTG
NM_002691.4:c.1888_1890delinsCTG MANE Select	NP_002682.2:p.Leu630=
NR_046402.2:n.1933_1935delinsCTG