Canonical Allele Identifier: CA252647
Gene: CDC73 HGNC NCBI

Linked Data

ClinVar Variation Id: 3270
ClinVar RCV Id: RCV000003427 RCV000003428 RCV000664206
dbSNP Id: rs80356649
MyVariant Identifiers: chr1:g.193111146_193111147insAG (hg19) chr1:g.193142016_193142017insAG (hg38)
PubMed: PMID:12434154 PMID:14585940 PMID:14715834 PMID:20301744
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193142016_193142017insAG , CM000663.2:g.193142016_193142017insAG GRCh38
NC_000001.10:g.193111146_193111147insAG , CM000663.1:g.193111146_193111147insAG GRCh37
NC_000001.9:g.191377769_191377770insAG NCBI36
NG_012691.1:g.25059_25060insAG , LRG_507:g.25059_25060insAG

Transcript Alleles

HGVS Amino-acid change
ENST00000367435.5:c.679_680insAG MANE Select ENSP00000356405.4:p.Arg227LysfsTer31
ENST00000635846.1:c.679_680insAG ENSP00000490035.1:p.Arg227LysfsTer?
ENST00000643006.1:c.679_680insAG ENSP00000496633.1:p.Arg227LysfsTer31
ENST00000643784.1:c.*155_*156insAG ENSP00000494944.1:n.*155_*156insAG
ENST00000647662.1:n.580_581insAG
ENST00000648071.1:c.*655_*656insAG ENSP00000497513.1:n.*655_*656insAG
ENST00000649606.1:n.692_693insAG
ENST00000649895.1:n.897_898insAG
ENST00000650197.1:c.679_680insAG ENSP00000496929.1:p.Arg227LysfsTer31
ENST00000367435.3:c.679_680insAG ENSP00000356405.3:p.Arg227LysfsTer31
NM_024529.4:c.679_680insAG , LRG_507t1:c.679_680insAG NP_078805.3:p.Arg227LysfsTer31
XM_006711537.2:c.679_680insAG XP_006711600.1:p.Arg227LysfsTer31
XM_006711537.4:c.679_680insAG XP_006711600.1:p.Arg227LysfsTer31
NM_024529.5:c.679_680insAG MANE Select NP_078805.3:p.Arg227LysfsTer31
Search 100 bp 5'
Search 100 bp 3'