Canonical Allele Identifier: CA252657

Gene: CDC73

Linked Data

• ClinVar Variation Id: 3280
• ClinVar RCV Id: RCV000003441
• dbSNP Id: rs587776560
• COSMIC: COSM26069
• MyVariant Identifiers: chr1:g.193091415del (hg19) ; chr1:g.193122285del (hg38)
• PubMed: PMID:15613436

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193122285del , CM000663.2:g.193122285del	GRCh38
NC_000001.10:g.193091415del , CM000663.1:g.193091415del	GRCh37
NC_000001.9:g.191358038del	NCBI36
NG_012691.1:g.5328del , LRG_507:g.5328del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.85del MANE Select	ENSP00000356405.4:p.Glu29SerfsTer8
ENST00000635846.1:c.85del	ENSP00000490035.1:p.Glu29SerfsTer8
ENST00000643006.1:c.85del	ENSP00000496633.1:p.Glu29SerfsTer8
ENST00000643784.1:c.85del	ENSP00000494944.1:p.Glu29SerfsTer8
ENST00000648071.1:c.85del	ENSP00000497513.1:p.Glu29SerfsTer8
ENST00000649606.1:n.98del
ENST00000649895.1:n.303del
ENST00000650197.1:c.85del	ENSP00000496929.1:p.Glu29SerfsTer8
ENST00000367435.3:c.85del	ENSP00000356405.3:p.Glu29SerfsTer8
NM_024529.4:c.85del , LRG_507t1:c.85del	NP_078805.3:p.Glu29SerfsTer8
XM_006711537.2:c.85del	XP_006711600.1:p.Glu29SerfsTer8
XM_006711537.4:c.85del	XP_006711600.1:p.Glu29SerfsTer8
XR_001738350.1:n.1375del
NM_024529.5:c.85del MANE Select	NP_078805.3:p.Glu29SerfsTer8