Canonical Allele Identifier: CA883191046

Gene: POLD1

Linked Data

• dbSNP Id: rs1315370549
• gnomAD v3: 19-50407293-T-TACCCACTCCATTTCCCACCTTC
• gnomAD v4: 19-50407293-T-TACCCACTCCATTTCCCACCTTC
• MyVariant Identifiers: chr19:g.50910550_50910551insACCCACTCCATTTCCCACCTTC (hg19) ; chr19:g.50407293_50407294insACCCACTCCATTTCCCACCTTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50407294_50407315dup , CM000681.2:g.50407294_50407315dup	GRCh38
NC_000019.9:g.50910551_50910572dup , CM000681.1:g.50910551_50910572dup	GRCh37
NC_000019.8:g.55602363_55602384dup	NCBI36
NG_033800.1:g.27972_27993dup , LRG_785:g.27972_27993dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593887.2:c.1687-33_1687-12dup	ENSP00000472607.2:n.1687-33_1687-12dup
ENST00000600746.2:n.1878-33_1878-12dup
ENST00000644560.2:c.1687-33_1687-12dup	ENSP00000495618.2:n.1687-33_1687-12dup
ENST00000687454.1:c.1687-33_1687-12dup	ENSP00000510052.1:n.1687-33_1687-12dup
ENST00000440232.7:c.1687-33_1687-12dup MANE Select	ENSP00000406046.1:n.1687-33_1687-12dup
ENST00000595904.6:c.1687-33_1687-12dup	ENSP00000472445.1:n.1687-33_1687-12dup
ENST00000599857.7:c.1687-33_1687-12dup	ENSP00000473052.1:n.1687-33_1687-12dup
ENST00000601098.6:c.1687-33_1687-12dup	ENSP00000472600.2:n.1687-33_1687-12dup
ENST00000613923.6:c.1687-33_1687-12dup	ENSP00000481858.2:n.1687-33_1687-12dup
ENST00000643407.1:c.1687-33_1687-12dup	ENSP00000496078.1:n.1687-33_1687-12dup
ENST00000644560.1:c.558-33_558-12dup
ENST00000440232.6:c.1687-33_1687-12dup	ENSP00000406046.1:n.1687-33_1687-12dup
ENST00000595904.5:c.1687-33_1687-12dup	ENSP00000472445.1:n.1687-33_1687-12dup
ENST00000596425.1:c.92-33_92-12dup
ENST00000599857.5:c.1687-33_1687-12dup	ENSP00000473052.1:n.1687-33_1687-12dup
ENST00000600859.5:c.1687-33_1687-12dup	ENSP00000470726.1:n.1687-33_1687-12dup
ENST00000613923.4:c.1687-33_1687-12dup	ENSP00000481858.1:n.1687-33_1687-12dup
NM_001256849.1:c.1687-33_1687-12dup , LRG_785t1:c.1687-33_1687-12dup	NP_001243778.1:n.1687-33_1687-12dup
NM_001308632.1:c.1687-33_1687-12dup , LRG_785t2:c.1687-33_1687-12dup	NP_001295561.1:n.1687-33_1687-12dup
NM_002691.3:c.1687-33_1687-12dup	NP_002682.2:n.1687-33_1687-12dup
NR_046402.1:n.1756-33_1756-12dup
XM_005259008.3:c.1687-33_1687-12dup	XP_005259065.1:n.1687-33_1687-12dup
XM_011527038.1:c.1687-33_1687-12dup	XP_011525340.1:n.1687-33_1687-12dup
XM_011527039.1:c.1687-33_1687-12dup	XP_011525341.1:n.1687-33_1687-12dup
XR_935835.1:n.1789-33_1789-12dup
XM_005259008.4:c.1687-33_1687-12dup	XP_005259065.1:n.1687-33_1687-12dup
XM_017026881.1:c.1687-33_1687-12dup	XP_016882370.1:n.1687-33_1687-12dup
XM_017026882.2:c.1687-33_1687-12dup	XP_016882371.1:n.1687-33_1687-12dup
XR_935835.2:n.1788-33_1788-12dup
NM_002691.4:c.1687-33_1687-12dup MANE Select	NP_002682.2:n.1687-33_1687-12dup
NR_046402.2:n.1732-33_1732-12dup