Canonical Allele Identifier: CA1303444

Gene: CDC73

Linked Data

• ClinVar Variation Id: 2692168
• ClinVar RCV Id: RCV003494365
• dbSNP Id: rs80356646
• ExAC: 1:193111228 T / TGA
• gnomAD v2: 1-193111228-T-TGA
• gnomAD v3: 1-193142098-T-TGA
• gnomAD v4: 1-193142098-T-TGA
• MyVariant Identifiers: chr1:g.193111236_193111237insGA (hg19) ; chr1:g.193111234_193111235insGA (hg19) ; chr1:g.193111228_193111229insGA (hg19) ; chr1:g.193142106_193142107insGA (hg38) ; chr1:g.193142104_193142105insGA (hg38) ; chr1:g.193142098_193142099insGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193142116_193142117dup , CM000663.2:g.193142116_193142117dup	GRCh38
NC_000001.10:g.193111246_193111247dup , CM000663.1:g.193111246_193111247dup	GRCh37
NC_000001.9:g.191377869_191377870dup	NCBI36
NG_012691.1:g.25159_25160dup , LRG_507:g.25159_25160dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.729+50_729+51dup MANE Select	ENSP00000356405.4:n.729+50_729+51dup
ENST00000635846.1:c.729+50_729+51dup	ENSP00000490035.1:n.729+50_729+51dup
ENST00000643006.1:c.729+50_729+51dup	ENSP00000496633.1:n.729+50_729+51dup
ENST00000643784.1:c.*205+50_*205+51dup	ENSP00000494944.1:n.*205+50_*205+51dup
ENST00000647662.1:n.630+50_630+51dup
ENST00000648071.1:c.*705+50_*705+51dup	ENSP00000497513.1:n.*705+50_*705+51dup
ENST00000649606.1:n.742+50_742+51dup
ENST00000649895.1:n.947+50_947+51dup
ENST00000650197.1:c.729+50_729+51dup	ENSP00000496929.1:n.729+50_729+51dup
ENST00000367435.3:c.729+50_729+51dup	ENSP00000356405.3:n.729+50_729+51dup
NM_024529.4:c.729+50_729+51dup , LRG_507t1:c.729+50_729+51dup	NP_078805.3:n.729+50_729+51dup
XM_006711537.2:c.729+50_729+51dup	XP_006711600.1:n.729+50_729+51dup
XM_006711537.4:c.729+50_729+51dup	XP_006711600.1:n.729+50_729+51dup
NM_024529.5:c.729+50_729+51dup MANE Select	NP_078805.3:n.729+50_729+51dup