Canonical Allele Identifier: CA2586573240

Gene: POLD1

Linked Data

• gnomAD v4: 19-50417721-AGGGGGCGGGTGGGCTGGGCAGCAGGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50417726_50417751del , CM000681.2:g.50417726_50417751del	GRCh38
NC_000019.9:g.50920983_50921008del , CM000681.1:g.50920983_50921008del	GRCh37
NC_000019.8:g.55612795_55612820del	NCBI36
NG_033800.1:g.38404_38429del , LRG_785:g.38404_38429del

Transcript Alleles

HGVS	Amino-acid change
ENST00000593887.2:c.3219-116_3219-91del	ENSP00000472607.2:n.3219-116_3219-91del
ENST00000600746.2:n.3410-116_3410-91del
ENST00000644560.2:c.3225-116_3225-91del	ENSP00000495618.2:n.3225-116_3225-91del
ENST00000687454.1:c.3219-116_3219-91del	ENSP00000510052.1:n.3219-116_3219-91del
ENST00000440232.7:c.3219-116_3219-91del MANE Select	ENSP00000406046.1:n.3219-116_3219-91del
ENST00000595904.6:c.3297-116_3297-91del	ENSP00000472445.1:n.3297-116_3297-91del
ENST00000599857.7:c.3219-116_3219-91del	ENSP00000473052.1:n.3219-116_3219-91del
ENST00000601098.6:c.3219-116_3219-91del	ENSP00000472600.2:n.3219-116_3219-91del
ENST00000613923.6:c.3147-116_3147-91del	ENSP00000481858.2:n.3147-116_3147-91del
ENST00000440232.6:c.3219-116_3219-91del	ENSP00000406046.1:n.3219-116_3219-91del
ENST00000593981.1:c.792-116_792-91del
ENST00000595904.5:c.3297-116_3297-91del	ENSP00000472445.1:n.3297-116_3297-91del
ENST00000596221.1:n.244-116_244-91del
ENST00000597963.5:n.563-116_563-91del
ENST00000599632.1:c.426+457_426+482del
ENST00000599857.5:c.3219-116_3219-91del	ENSP00000473052.1:n.3219-116_3219-91del
ENST00000600859.5:c.*86-116_*86-91del	ENSP00000470726.1:n.*86-116_*86-91del
ENST00000613923.4:c.3297-116_3297-91del	ENSP00000481858.1:n.3297-116_3297-91del
NM_001256849.1:c.3219-116_3219-91del , LRG_785t1:c.3219-116_3219-91del	NP_001243778.1:n.3219-116_3219-91del
NM_001308632.1:c.3297-116_3297-91del , LRG_785t2:c.3297-116_3297-91del	NP_001295561.1:n.3297-116_3297-91del
NM_002691.3:c.3219-116_3219-91del	NP_002682.2:n.3219-116_3219-91del
NR_046402.1:n.3185-116_3185-91del
XM_005259008.3:c.3147-116_3147-91del	XP_005259065.1:n.3147-116_3147-91del
XM_011527038.1:c.3219-116_3219-91del	XP_011525340.1:n.3219-116_3219-91del
XM_011527039.1:c.3219-116_3219-91del	XP_011525341.1:n.3219-116_3219-91del
XM_005259008.4:c.3147-116_3147-91del	XP_005259065.1:n.3147-116_3147-91del
XM_017026881.1:c.3219-116_3219-91del	XP_016882370.1:n.3219-116_3219-91del
XM_017026882.2:c.3147-116_3147-91del	XP_016882371.1:n.3147-116_3147-91del
NM_002691.4:c.3219-116_3219-91del MANE Select	NP_002682.2:n.3219-116_3219-91del
NR_046402.2:n.3161-116_3161-91del