Canonical Allele Identifier: CA2340885704

Gene: POLD1

Linked Data

• ClinVar Variation Id: 1025111
• ClinVar RCV Id: RCV001325388
• dbSNP Id: rs2038931997
• gnomAD v4: 19-50407314-TCTCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50407320_50407324del , CM000681.2:g.50407320_50407324del	GRCh38
NC_000019.9:g.50910577_50910581del , CM000681.1:g.50910577_50910581del	GRCh37
NC_000019.8:g.55602389_55602393del	NCBI36
NG_033800.1:g.27998_28002del , LRG_785:g.27998_28002del

Transcript Alleles

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