Canonical Allele Identifier: CA1303431

Gene: CDC73

Linked Data

• ClinVar Variation Id: 241496
• ClinVar RCV Id: RCV000226610 ; RCV000480915 ; RCV002365215 ; RCV002500813 ; RCV004529412
• dbSNP Id: rs760591174
• ExAC: 1:193111145 C / CAG
• gnomAD v2: 1-193111145-C-CAG
• gnomAD v3: 1-193142015-C-CAG
• gnomAD v4: 1-193142015-C-CAG
• COSMIC: COSM901385
• MyVariant Identifiers: chr1:g.193111154_193111155dupAG (hg19) ; chr1:g.193111149_193111150insAG (hg19) ; chr1:g.193111145_193111146insAG (hg19) ; chr1:g.193142024_193142025dupAG (hg38) ; chr1:g.193142019_193142020insAG (hg38) ; chr1:g.193142015_193142016insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193142024_193142025dup , CM000663.2:g.193142024_193142025dup	GRCh38
NC_000001.10:g.193111154_193111155dup , CM000663.1:g.193111154_193111155dup	GRCh37
NC_000001.9:g.191377777_191377778dup	NCBI36
NG_012691.1:g.25067_25068dup , LRG_507:g.25067_25068dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.687_688dup MANE Select	ENSP00000356405.4:p.Val230GlufsTer28
ENST00000635846.1:c.687_688dup	ENSP00000490035.1:p.Val230GlufsTer?
ENST00000643006.1:c.687_688dup	ENSP00000496633.1:p.Val230GlufsTer28
ENST00000643784.1:c.*163_*164dup	ENSP00000494944.1:n.*163_*164dup
ENST00000647662.1:n.588_589dup
ENST00000648071.1:c.*663_*664dup	ENSP00000497513.1:n.*663_*664dup
ENST00000649606.1:n.700_701dup
ENST00000649895.1:n.905_906dup
ENST00000650197.1:c.687_688dup	ENSP00000496929.1:p.Val230GlufsTer28
ENST00000367435.3:c.687_688dup	ENSP00000356405.3:p.Val230GlufsTer28
NM_024529.4:c.687_688dup , LRG_507t1:c.687_688dup	NP_078805.3:p.Val230GlufsTer28
XM_006711537.2:c.687_688dup	XP_006711600.1:p.Val230GlufsTer28
XM_006711537.4:c.687_688dup	XP_006711600.1:p.Val230GlufsTer28
NM_024529.5:c.687_688dup MANE Select	NP_078805.3:p.Val230GlufsTer28