Canonical Allele Identifier: CA1303226
Gene: CDC73 HGNC NCBI

Linked Data

ClinVar Variation Id: 286328
ClinVar RCV Id: RCV000306228 RCV000265031 RCV000365849 RCV000587300 RCV001023396 RCV000401688 RCV004543081
dbSNP Id: rs545666726
ExAC: 1:193091319 A / AG
gnomAD v2: 1-193091319-A-AG
gnomAD v3: 1-193122189-A-AG
gnomAD v4: 1-193122189-A-AG
COSMIC: COSN17145532
MyVariant Identifiers: chr1:g.193091327dupG (hg19) chr1:g.193091320_193091321insG (hg19) chr1:g.193091319_193091320insG (hg19) chr1:g.193122197dupG (hg38) chr1:g.193122190_193122191insG (hg38) chr1:g.193122189_193122190insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193122197dup , CM000663.2:g.193122197dup GRCh38
NC_000001.10:g.193091327dup , CM000663.1:g.193091327dup GRCh37
NC_000001.9:g.191357950dup NCBI36
NG_012691.1:g.5240dup , LRG_507:g.5240dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000367435.5:c.-4dup MANE Select ENSP00000356405.4:n.-4dup
ENST00000635846.1:c.-4dup ENSP00000490035.1:n.-4dup
ENST00000643006.1:c.-4dup ENSP00000496633.1:n.-4dup
ENST00000643784.1:c.-4dup ENSP00000494944.1:n.-4dup
ENST00000648071.1:c.-4dup ENSP00000497513.1:n.-4dup
ENST00000649606.1:n.10dup
ENST00000649895.1:n.215dup
ENST00000650197.1:c.-4dup ENSP00000496929.1:n.-4dup
ENST00000367435.3:c.-4dup ENSP00000356405.3:n.-4dup
NM_024529.4:c.-4dup , LRG_507t1:c.-4dup NP_078805.3:n.-4dup
XM_006711537.2:c.-4dup XP_006711600.1:n.-4dup
XM_006711537.4:c.-4dup XP_006711600.1:n.-4dup
XR_001738350.1:n.1467dup
NM_024529.5:c.-4dup MANE Select NP_078805.3:n.-4dup
Search 100 bp 5'
Search 100 bp 3'