Canonical Allele Identifier: CA16609960
Gene: CDC73 HGNC NCBI

Linked Data

ClinVar Variation Id: 403893
ClinVar RCV Id: RCV000463923
dbSNP Id: rs1060500020
MyVariant Identifiers: chr1:g.193091334del (hg19) chr1:g.193122204del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193122204del , CM000663.2:g.193122204del GRCh38
NC_000001.10:g.193091334del , CM000663.1:g.193091334del GRCh37
NC_000001.9:g.191357957del NCBI36
NG_012691.1:g.5247del , LRG_507:g.5247del

Transcript Alleles

HGVS Amino-acid change
ENST00000367435.5:c.4del MANE Select ENSP00000356405.4:p.Ala2ArgfsTer19
ENST00000635846.1:c.4del ENSP00000490035.1:p.Ala2ArgfsTer19
ENST00000643006.1:c.4del ENSP00000496633.1:p.Ala2ArgfsTer19
ENST00000643784.1:c.4del ENSP00000494944.1:p.Ala2ArgfsTer19
ENST00000648071.1:c.4del ENSP00000497513.1:p.Ala2ArgfsTer19
ENST00000649606.1:n.17del
ENST00000649895.1:n.222del
ENST00000650197.1:c.4del ENSP00000496929.1:p.Ala2ArgfsTer19
ENST00000367435.3:c.4del ENSP00000356405.3:p.Ala2ArgfsTer19
NM_024529.4:c.4del , LRG_507t1:c.4del NP_078805.3:p.Ala2ArgfsTer19
XM_006711537.2:c.4del XP_006711600.1:p.Ala2ArgfsTer19
XM_006711537.4:c.4del XP_006711600.1:p.Ala2ArgfsTer19
XR_001738350.1:n.1454del
NM_024529.5:c.4del MANE Select NP_078805.3:p.Ala2ArgfsTer19
Search 100 bp 5'
Search 100 bp 3'