Canonical Allele Identifier: CA528011371

Gene: CDC73

Linked Data

• dbSNP Id: rs1553287337
• gnomAD v2: 1-193173224-CATAA-C
• gnomAD v3: 1-193204094-CATAA-C
• gnomAD v4: 1-193204094-CATAA-C
• MyVariant Identifiers: chr1:g.193173225_193173228del (hg19) ; chr1:g.193204095_193204098del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193204100_193204103del , CM000663.2:g.193204100_193204103del	GRCh38
NC_000001.10:g.193173230_193173233del , CM000663.1:g.193173230_193173233del	GRCh37
NC_000001.9:g.191439853_191439856del	NCBI36
NG_012691.1:g.87143_87146del , LRG_507:g.87143_87146del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.1030+248_1030+251del MANE Select	ENSP00000356405.4:n.1030+248_1030+251del
ENST00000635846.1:c.787+248_787+251del	ENSP00000490035.1:n.787+248_787+251del
ENST00000643006.1:c.1098+248_1098+251del	ENSP00000496633.1:n.1098+248_1098+251del
ENST00000648071.1:c.*1006+248_*1006+251del	ENSP00000497513.1:n.*1006+248_*1006+251del
ENST00000649613.1:n.280+248_280+251del
ENST00000649895.1:n.1248+248_1248+251del
ENST00000650197.1:c.1030+248_1030+251del	ENSP00000496929.1:n.1030+248_1030+251del
ENST00000367435.3:c.1030+248_1030+251del	ENSP00000356405.3:n.1030+248_1030+251del
NM_024529.4:c.1030+248_1030+251del , LRG_507t1:c.1030+248_1030+251del	NP_078805.3:n.1030+248_1030+251del
NM_024529.5:c.1030+248_1030+251del MANE Select	NP_078805.3:n.1030+248_1030+251del