Canonical Allele Identifier: CA2580097629

Gene: POLD1

Linked Data

• ClinVar Variation Id: 1733880
• ClinVar RCV Id: RCV002452718

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50401829_50401830insGTGCCTGTGCTCCGTGCC , CM000681.2:g.50401829_50401830insGTGCCTGTGCTCCGTGCC	GRCh38
NC_000019.9:g.50905086_50905087insGTGCCTGTGCTCCGTGCC , CM000681.1:g.50905086_50905087insGTGCCTGTGCTCCGTGCC	GRCh37
NC_000019.8:g.55596898_55596899insGTGCCTGTGCTCCGTGCC	NCBI36
NG_033800.1:g.22507_22508insGTGCCTGTGCTCCGTGCC , LRG_785:g.22507_22508insGTGCCTGTGCTCCGTGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593887.2:c.368_369insGTGCCTGTGCTCCGTGCC	ENSP00000472607.2:p.Pro123_Val124insCysLeuCysSerValPro
ENST00000600746.2:n.479_480insGTGCCTGTGCTCCGTGCC
ENST00000644560.2:c.368_369insGTGCCTGTGCTCCGTGCC	ENSP00000495618.2:p.Pro123_Val124insCysLeuCysSerValPro
ENST00000687454.1:c.368_369insGTGCCTGTGCTCCGTGCC	ENSP00000510052.1:p.Pro123_Val124insCysLeuCysSerValPro
ENST00000440232.7:c.368_369insGTGCCTGTGCTCCGTGCC MANE Select	ENSP00000406046.1:p.Pro123_Val124insCysLeuCysSerValPro
ENST00000595904.6:c.368_369insGTGCCTGTGCTCCGTGCC	ENSP00000472445.1:p.Pro123_Val124insCysLeuCysSerValPro
ENST00000599857.7:c.368_369insGTGCCTGTGCTCCGTGCC	ENSP00000473052.1:p.Pro123_Val124insCysLeuCysSerValPro
ENST00000601098.6:c.368_369insGTGCCTGTGCTCCGTGCC	ENSP00000472600.2:p.Pro123_Val124insCysLeuCysSerValPro
ENST00000613923.6:c.368_369insGTGCCTGTGCTCCGTGCC	ENSP00000481858.2:p.Pro123_Val124insCysLeuCysSerValPro
ENST00000643407.1:c.368_369insGTGCCTGTGCTCCGTGCC	ENSP00000496078.1:p.Pro123_Val124insCysLeuCysSerValPro
ENST00000440232.6:c.368_369insGTGCCTGTGCTCCGTGCC	ENSP00000406046.1:p.Pro123_Val124insCysLeuCysSerValPro
ENST00000595904.5:c.368_369insGTGCCTGTGCTCCGTGCC	ENSP00000472445.1:p.Pro123_Val124insCysLeuCysSerValPro
ENST00000599857.5:c.368_369insGTGCCTGTGCTCCGTGCC	ENSP00000473052.1:p.Pro123_Val124insCysLeuCysSerValPro
ENST00000600746.1:n.393_394insGTGCCTGTGCTCCGTGCC
ENST00000600859.5:c.368_369insGTGCCTGTGCTCCGTGCC	ENSP00000470726.1:p.Pro123_Val124insCysLeuCysSerValPro
ENST00000601098.5:c.368_369insGTGCCTGTGCTCCGTGCC	ENSP00000472600.1:p.Pro123_Val124insCysLeuCysSerValPro
ENST00000613923.4:c.368_369insGTGCCTGTGCTCCGTGCC	ENSP00000481858.1:p.Pro123_Val124insCysLeuCysSerValPro
NM_001256849.1:c.368_369insGTGCCTGTGCTCCGTGCC , LRG_785t1:c.368_369insGTGCCTGTGCTCCGTGCC	NP_001243778.1:p.Pro123_Val124insCysLeuCysSerValPro
NM_001308632.1:c.368_369insGTGCCTGTGCTCCGTGCC , LRG_785t2:c.368_369insGTGCCTGTGCTCCGTGCC	NP_001295561.1:p.Pro123_Val124insCysLeuCysSerValPro
NM_002691.3:c.368_369insGTGCCTGTGCTCCGTGCC	NP_002682.2:p.Pro123_Val124insCysLeuCysSerValPro
NR_046402.1:n.437_438insGTGCCTGTGCTCCGTGCC
XM_005259008.3:c.368_369insGTGCCTGTGCTCCGTGCC	XP_005259065.1:p.Pro123_Val124insCysLeuCysSerValPro
XM_011527038.1:c.368_369insGTGCCTGTGCTCCGTGCC	XP_011525340.1:p.Pro123_Val124insCysLeuCysSerValPro
XM_011527039.1:c.368_369insGTGCCTGTGCTCCGTGCC	XP_011525341.1:p.Pro123_Val124insCysLeuCysSerValPro
XR_935835.1:n.470_471insGTGCCTGTGCTCCGTGCC
XM_005259008.4:c.368_369insGTGCCTGTGCTCCGTGCC	XP_005259065.1:p.Pro123_Val124insCysLeuCysSerValPro
XM_017026881.1:c.368_369insGTGCCTGTGCTCCGTGCC	XP_016882370.1:p.Pro123_Val124insCysLeuCysSerValPro
XM_017026882.2:c.368_369insGTGCCTGTGCTCCGTGCC	XP_016882371.1:p.Pro123_Val124insCysLeuCysSerValPro
XR_935835.2:n.469_470insGTGCCTGTGCTCCGTGCC
NM_002691.4:c.368_369insGTGCCTGTGCTCCGTGCC MANE Select	NP_002682.2:p.Pro123_Val124insCysLeuCysSerValPro
NR_046402.2:n.413_414insGTGCCTGTGCTCCGTGCC