Canonical Allele Identifier: CA2586967898
Gene: CDC73 HGNC NCBI

Linked Data

ClinVar Variation Id: 2734057
ClinVar RCV Id: RCV003501680

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193122235_193122241del , CM000663.2:g.193122235_193122241del GRCh38
NC_000001.10:g.193091365_193091371del , CM000663.1:g.193091365_193091371del GRCh37
NC_000001.9:g.191357988_191357994del NCBI36
NG_012691.1:g.5278_5284del , LRG_507:g.5278_5284del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367435.5:c.35_41del MANE Select ENSP00000356405.4:p.Asn12ArgfsTer7
ENST00000635846.1:c.35_41del ENSP00000490035.1:p.Asn12ArgfsTer7
ENST00000643006.1:c.35_41del ENSP00000496633.1:p.Asn12ArgfsTer7
ENST00000643784.1:c.35_41del ENSP00000494944.1:p.Asn12ArgfsTer7
ENST00000648071.1:c.35_41del ENSP00000497513.1:p.Asn12ArgfsTer7
ENST00000649606.1:n.48_54del
ENST00000649895.1:n.253_259del
ENST00000650197.1:c.35_41del ENSP00000496929.1:p.Asn12ArgfsTer7
ENST00000367435.3:c.35_41del ENSP00000356405.3:p.Asn12ArgfsTer7
NM_024529.4:c.35_41del , LRG_507t1:c.35_41del NP_078805.3:p.Asn12ArgfsTer7
XM_006711537.2:c.35_41del XP_006711600.1:p.Asn12ArgfsTer7
XM_006711537.4:c.35_41del XP_006711600.1:p.Asn12ArgfsTer7
XR_001738350.1:n.1418_1424del
NM_024529.5:c.35_41del MANE Select NP_078805.3:p.Asn12ArgfsTer7