Canonical Allele Identifier: CA9595915

Gene: POLD1

Linked Data

• ClinVar Variation Id: 484336
• ClinVar RCV Id: RCV000562268 ; RCV000645839 ; RCV000679528 ; RCV002469204 ; RCV004527664
• dbSNP Id: rs746341854
• ExAC: 19:50905784 AAGG / A
• gnomAD v2: 19-50905784-AAGG-A
• gnomAD v3: 19-50402527-AAGG-A
• gnomAD v4: 19-50402527-AAGG-A
• MyVariant Identifiers: chr19:g.50905787_50905789del (hg19) ; chr19:g.50905785_50905787del (hg19) ; chr19:g.50402530_50402532del (hg38) ; chr19:g.50402529_50402531del (hg38) ; chr19:g.50402528_50402530del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50402530_50402532del , CM000681.2:g.50402530_50402532del	GRCh38
NC_000019.9:g.50905787_50905789del , CM000681.1:g.50905787_50905789del	GRCh37
NC_000019.8:g.55597599_55597601del	NCBI36
NG_033800.1:g.23208_23210del , LRG_785:g.23208_23210del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593887.2:c.835_837del	ENSP00000472607.2:p.Glu279del
ENST00000600746.2:n.1026_1028del
ENST00000644560.2:c.835_837del	ENSP00000495618.2:p.Glu279del
ENST00000687454.1:c.835_837del	ENSP00000510052.1:p.Glu279del
ENST00000440232.7:c.835_837del MANE Select	ENSP00000406046.1:p.Glu279del
ENST00000595904.6:c.835_837del	ENSP00000472445.1:p.Glu279del
ENST00000599857.7:c.835_837del	ENSP00000473052.1:p.Glu279del
ENST00000601098.6:c.835_837del	ENSP00000472600.2:p.Glu279del
ENST00000613923.6:c.835_837del	ENSP00000481858.2:p.Glu279del
ENST00000643407.1:c.835_837del	ENSP00000496078.1:p.Glu279del
ENST00000440232.6:c.835_837del	ENSP00000406046.1:p.Glu279del
ENST00000595904.5:c.835_837del	ENSP00000472445.1:p.Glu279del
ENST00000599857.5:c.835_837del	ENSP00000473052.1:p.Glu279del
ENST00000600746.1:n.940_942del
ENST00000600859.5:c.835_837del	ENSP00000470726.1:p.Glu279del
ENST00000613923.4:c.835_837del	ENSP00000481858.1:p.Glu279del
NM_001256849.1:c.835_837del , LRG_785t1:c.835_837del	NP_001243778.1:p.Glu279del
NM_001308632.1:c.835_837del , LRG_785t2:c.835_837del	NP_001295561.1:p.Glu279del
NM_002691.3:c.835_837del	NP_002682.2:p.Glu279del
NR_046402.1:n.904_906del
XM_005259008.3:c.835_837del	XP_005259065.1:p.Glu279del
XM_011527038.1:c.835_837del	XP_011525340.1:p.Glu279del
XM_011527039.1:c.835_837del	XP_011525341.1:p.Glu279del
XR_935835.1:n.937_939del
XM_005259008.4:c.835_837del	XP_005259065.1:p.Glu279del
XM_017026881.1:c.835_837del	XP_016882370.1:p.Glu279del
XM_017026882.2:c.835_837del	XP_016882371.1:p.Glu279del
XR_935835.2:n.936_938del
NM_002691.4:c.835_837del MANE Select	NP_002682.2:p.Glu279del
NR_046402.2:n.880_882del