Canonical Allele Identifier: CA16616427

Gene: POLD1

Linked Data

• ClinVar Variation Id: 407973
• ClinVar RCV Id: RCV003320648
• dbSNP Id: rs1064792944
• gnomAD v4: 19-50417093-AGGAGGTGAGAGGGCCG-A
• MyVariant Identifiers: chr19:g.50920360_50920375del (hg19) ; chr19:g.50417103_50417118del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50417103_50417118del , CM000681.2:g.50417103_50417118del	GRCh38
NC_000019.9:g.50920360_50920375del , CM000681.1:g.50920360_50920375del	GRCh37
NC_000019.8:g.55612172_55612187del	NCBI36
NG_033800.1:g.37781_37796del , LRG_785:g.37781_37796del

Transcript Alleles

HGVS	Amino-acid change
ENST00000593887.2:c.3120+6_3120+21del
ENST00000600746.2:n.3311+6_3311+21del
ENST00000644560.2:c.3126+6_3126+21del
ENST00000687454.1:c.3120+6_3120+21del
ENST00000440232.7:c.3120+6_3120+21del
ENST00000595904.6:c.3198+6_3198+21del
ENST00000599857.7:c.3120+6_3120+21del
ENST00000601098.6:c.3120+6_3120+21del
ENST00000613923.6:c.3048+6_3048+21del
ENST00000440232.6:c.3120+6_3120+21del
ENST00000593981.1:c.694-69_694-54del
ENST00000595904.5:c.3198+6_3198+21del
ENST00000596221.1:n.145+6_145+21del
ENST00000597963.5:n.464+6_464+21del
ENST00000599632.1:c.328+6_328+21del
ENST00000599857.5:c.3120+6_3120+21del
ENST00000600859.5:c.3017+6_3017+21del
ENST00000613923.4:c.3198+6_3198+21del
NM_001256849.1:c.3120+6_3120+21del , LRG_785t1:c.3120+6_3120+21del
NM_001308632.1:c.3198+6_3198+21del , LRG_785t2:c.3198+6_3198+21del
NM_002691.3:c.3120+6_3120+21del
NR_046402.1:n.3086+6_3086+21del
XM_005259008.3:c.3048+6_3048+21del
XM_011527038.1:c.3120+6_3120+21del
XM_011527039.1:c.3120+6_3120+21del
XM_005259008.4:c.3048+6_3048+21del
XM_017026881.1:c.3120+6_3120+21del
XM_017026882.2:c.3048+6_3048+21del
NM_002691.4:c.3120+6_3120+21del
NR_046402.2:n.3062+6_3062+21del