Canonical Allele Identifier: CA2697810780
Gene: CDC73 HGNC NCBI

Linked Data

dbSNP Id: rs2103126404

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193142030del , CM000663.2:g.193142030del GRCh38
NC_000001.10:g.193111160del , CM000663.1:g.193111160del GRCh37
NC_000001.9:g.191377783del NCBI36
NG_012691.1:g.25073del , LRG_507:g.25073del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367435.5:c.693del MANE Select ENSP00000356405.4:p.Trp231Ter
ENST00000635846.1:c.693del ENSP00000490035.1:p.Trp231Ter
ENST00000643006.1:c.693del ENSP00000496633.1:p.Trp231Ter
ENST00000643784.1:c.*169del ENSP00000494944.1:n.*169del
ENST00000647662.1:n.594del
ENST00000648071.1:c.*669del ENSP00000497513.1:n.*669del
ENST00000649606.1:n.706del
ENST00000649895.1:n.911del
ENST00000650197.1:c.693del ENSP00000496929.1:p.Trp231Ter
ENST00000367435.3:c.693del ENSP00000356405.3:p.Trp231Ter
NM_024529.4:c.693del , LRG_507t1:c.693del NP_078805.3:p.Trp231Ter
XM_006711537.2:c.693del XP_006711600.1:p.Trp231Ter
XM_006711537.4:c.693del XP_006711600.1:p.Trp231Ter
NM_024529.5:c.693del MANE Select NP_078805.3:p.Trp231Ter