Canonical Allele Identifier: CA633685714

Gene: POLD1

Linked Data

• dbSNP Id: rs1488250827
• gnomAD v2: 19-50921088-CCCACCCGCAGCCGGGA-C
• MyVariant Identifiers: chr19:g.50921089_50921104del (hg19) ; chr19:g.50417832_50417847del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50417833_50417848del , CM000681.2:g.50417833_50417848del	GRCh38
NC_000019.9:g.50921090_50921105del , CM000681.1:g.50921090_50921105del	GRCh37
NC_000019.8:g.55612902_55612917del	NCBI36
NG_033800.1:g.38511_38526del , LRG_785:g.38511_38526del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593887.2:c.3219-9_3225del
ENST00000600746.2:n.3410-9_3416del
ENST00000644560.2:c.3225-9_3231del
ENST00000687454.1:c.3219-9_3225del
ENST00000440232.7:c.3219-9_3225del
ENST00000595904.6:c.3297-9_3303del
ENST00000599857.7:c.3219-9_3225del
ENST00000601098.6:c.3219-9_3225del
ENST00000613923.6:c.3147-9_3153del
ENST00000440232.6:c.3219-9_3225del
ENST00000593981.1:c.792-9_798del
ENST00000595904.5:c.3297-9_3303del
ENST00000596221.1:n.244-9_250del
ENST00000597963.5:n.563-9_569del
ENST00000599632.1:c.426+564_426+579del
ENST00000599857.5:c.3219-9_3225del
ENST00000600859.5:c.*86-9_*92del
ENST00000613923.4:c.3297-9_3303del
NM_001256849.1:c.3219-9_3225del , LRG_785t1:c.3219-9_3225del
NM_001308632.1:c.3297-9_3303del , LRG_785t2:c.3297-9_3303del
NM_002691.3:c.3219-9_3225del
NR_046402.1:n.3185-9_3191del
XM_005259008.3:c.3147-9_3153del
XM_011527038.1:c.3219-9_3225del
XM_011527039.1:c.3219-9_3225del
XM_005259008.4:c.3147-9_3153del
XM_017026881.1:c.3219-9_3225del
XM_017026882.2:c.3147-9_3153del
NM_002691.4:c.3219-9_3225del
NR_046402.2:n.3161-9_3167del