Canonical Allele Identifier: CA16609962
Gene: CDC73 HGNC NCBI

Linked Data

ClinVar Variation Id: 403892
ClinVar RCV Id: RCV000477581
dbSNP Id: rs1060500019
MyVariant Identifiers: chr1:g.193107246_193107247del (hg19) chr1:g.193138116_193138117del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193138116_193138117del , CM000663.2:g.193138116_193138117del GRCh38
NC_000001.10:g.193107246_193107247del , CM000663.1:g.193107246_193107247del GRCh37
NC_000001.9:g.191373869_191373870del NCBI36
NG_012691.1:g.21159_21160del , LRG_507:g.21159_21160del

Transcript Alleles

HGVS Amino-acid change
ENST00000367435.5:c.455_456del MANE Select ENSP00000356405.4:p.Arg152IlefsTer16
ENST00000635846.1:c.455_456del ENSP00000490035.1:p.Arg152IlefsTer16
ENST00000643006.1:c.455_456del ENSP00000496633.1:p.Arg152IlefsTer16
ENST00000643784.1:c.455_456del ENSP00000494944.1:p.Arg152IlefsTer16
ENST00000647662.1:n.356_357del
ENST00000648071.1:c.*431_*432del ENSP00000497513.1:n.*431_*432del
ENST00000649606.1:n.468_469del
ENST00000649706.1:n.396_397del
ENST00000649895.1:n.673_674del
ENST00000650197.1:c.455_456del ENSP00000496929.1:p.Arg152IlefsTer16
ENST00000367435.3:c.455_456del ENSP00000356405.3:p.Arg152IlefsTer16
ENST00000482484.1:n.707_708del
NM_024529.4:c.455_456del , LRG_507t1:c.455_456del NP_078805.3:p.Arg152IlefsTer16
XM_006711537.2:c.455_456del XP_006711600.1:p.Arg152IlefsTer16
XM_006711537.4:c.455_456del XP_006711600.1:p.Arg152IlefsTer16
NM_024529.5:c.455_456del MANE Select NP_078805.3:p.Arg152IlefsTer16
Search 100 bp 5'
Search 100 bp 3'