Canonical Allele Identifier: CA2580097929
Gene: POLD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1729017
ClinVar RCV Id: RCV002324657

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50417833_50417854dup , CM000681.2:g.50417833_50417854dup GRCh38
NC_000019.9:g.50921090_50921111dup , CM000681.1:g.50921090_50921111dup GRCh37
NC_000019.8:g.55612902_55612923dup NCBI36
NG_033800.1:g.38511_38532dup , LRG_785:g.38511_38532dup

Transcript Alleles

HGVS Amino-acid change
ENST00000593887.2:c.3219-9_3231dup
ENST00000600746.2:n.3410-9_3422dup
ENST00000644560.2:c.3225-9_3237dup
ENST00000687454.1:c.3219-9_3231dup
ENST00000440232.7:c.3219-9_3231dup
ENST00000595904.6:c.3297-9_3309dup
ENST00000599857.7:c.3219-9_3231dup
ENST00000601098.6:c.3219-9_3231dup
ENST00000613923.6:c.3147-9_3159dup
ENST00000440232.6:c.3219-9_3231dup
ENST00000593981.1:c.792-9_804dup
ENST00000595904.5:c.3297-9_3309dup
ENST00000596221.1:n.244-9_256dup
ENST00000597963.5:n.563-9_575dup
ENST00000599632.1:c.426+564_426+585dup
ENST00000599857.5:c.3219-9_3231dup
ENST00000600859.5:c.*86-9_*98dup
ENST00000613923.4:c.3297-9_3309dup
NM_001256849.1:c.3219-9_3231dup , LRG_785t1:c.3219-9_3231dup
NM_001308632.1:c.3297-9_3309dup , LRG_785t2:c.3297-9_3309dup
NM_002691.3:c.3219-9_3231dup
NR_046402.1:n.3185-9_3197dup
XM_005259008.3:c.3147-9_3159dup
XM_011527038.1:c.3219-9_3231dup
XM_011527039.1:c.3219-9_3231dup
XM_005259008.4:c.3147-9_3159dup
XM_017026881.1:c.3219-9_3231dup
XM_017026882.2:c.3147-9_3159dup
NM_002691.4:c.3219-9_3231dup
NR_046402.2:n.3161-9_3173dup