Canonical Allele Identifier: CA16616113

Gene: POLD1

Linked Data

• ClinVar Variation Id: 407958
• ClinVar RCV Id: RCV000471600
• dbSNP Id: rs1060501803
• MyVariant Identifiers: chr19:g.50905251_50905258del (hg19) ; chr19:g.50401994_50402001del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50401994_50402001del , CM000681.2:g.50401994_50402001del	GRCh38
NC_000019.9:g.50905251_50905258del , CM000681.1:g.50905251_50905258del	GRCh37
NC_000019.8:g.55597063_55597070del	NCBI36
NG_033800.1:g.22672_22679del , LRG_785:g.22672_22679del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593887.2:c.464-5_466del
ENST00000600746.2:n.575-5_577del
ENST00000644560.2:c.464-5_466del
ENST00000687454.1:c.464-5_466del
ENST00000440232.7:c.464-5_466del
ENST00000595904.6:c.464-5_466del
ENST00000599857.7:c.464-5_466del
ENST00000601098.6:c.464-5_466del
ENST00000613923.6:c.464-5_466del
ENST00000643407.1:c.464-5_466del
ENST00000440232.6:c.464-5_466del
ENST00000595904.5:c.464-5_466del
ENST00000599857.5:c.464-5_466del
ENST00000600746.1:n.489-5_491del
ENST00000600859.5:c.464-5_466del
ENST00000601098.5:c.464-5_466del
ENST00000613923.4:c.464-5_466del
NM_001256849.1:c.464-5_466del , LRG_785t1:c.464-5_466del
NM_001308632.1:c.464-5_466del , LRG_785t2:c.464-5_466del
NM_002691.3:c.464-5_466del
NR_046402.1:n.533-5_535del
XM_005259008.3:c.464-5_466del
XM_011527038.1:c.464-5_466del
XM_011527039.1:c.464-5_466del
XR_935835.1:n.566-5_568del
XM_005259008.4:c.464-5_466del
XM_017026881.1:c.464-5_466del
XM_017026882.2:c.464-5_466del
XR_935835.2:n.565-5_567del
NM_002691.4:c.464-5_466del
NR_046402.2:n.509-5_511del