Canonical Allele Identifier: CA16609946
Gene: CDC73 HGNC NCBI

Linked Data

ClinVar Variation Id: 403878
ClinVar RCV Id: RCV000458654
dbSNP Id: rs1060500009
MyVariant Identifiers: chr1:g.193099311del (hg19) chr1:g.193130181del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193130181del , CM000663.2:g.193130181del GRCh38
NC_000001.10:g.193099311del , CM000663.1:g.193099311del GRCh37
NC_000001.9:g.191365934del NCBI36
NG_012691.1:g.13224del , LRG_507:g.13224del

Transcript Alleles

HGVS Amino-acid change
ENST00000367435.5:c.245del MANE Select ENSP00000356405.4:p.Asn82IlefsTer27
ENST00000635846.1:c.245del ENSP00000490035.1:p.Asn82IlefsTer27
ENST00000643006.1:c.245del ENSP00000496633.1:p.Asn82IlefsTer27
ENST00000643784.1:c.245del ENSP00000494944.1:p.Asn82IlefsTer27
ENST00000647662.1:n.146del
ENST00000648071.1:c.*221del ENSP00000497513.1:n.*221del
ENST00000649606.1:n.258del
ENST00000649706.1:n.186del
ENST00000649895.1:n.463del
ENST00000650197.1:c.245del ENSP00000496929.1:p.Asn82IlefsTer27
ENST00000367435.3:c.245del ENSP00000356405.3:p.Asn82IlefsTer27
ENST00000482484.1:n.497del
NM_024529.4:c.245del , LRG_507t1:c.245del NP_078805.3:p.Asn82IlefsTer27
XM_006711537.2:c.245del XP_006711600.1:p.Asn82IlefsTer27
XR_241165.2:n.303+179del
XM_006711537.4:c.245del XP_006711600.1:p.Asn82IlefsTer27
NM_024529.5:c.245del MANE Select NP_078805.3:p.Asn82IlefsTer27
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