Canonical Allele Identifier: CA1303445

Gene: CDC73

Linked Data

• dbSNP Id: rs80356646
• ExAC: 1:193111228 TGAGAGA / T
• gnomAD v2: 1-193111228-TGAGAGA-T
• gnomAD v3: 1-193142098-TGAGAGA-T
• gnomAD v4: 1-193142098-TGAGAGA-T
• MyVariant Identifiers: chr1:g.193111231_193111236del (hg19) ; chr1:g.193111229_193111234del (hg19) ; chr1:g.193142101_193142106del (hg38) ; chr1:g.193142099_193142104del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193142112_193142117del , CM000663.2:g.193142112_193142117del	GRCh38
NC_000001.10:g.193111242_193111247del , CM000663.1:g.193111242_193111247del	GRCh37
NC_000001.9:g.191377865_191377870del	NCBI36
NG_012691.1:g.25155_25160del , LRG_507:g.25155_25160del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.729+46_729+51del MANE Select	ENSP00000356405.4:n.729+46_729+51del
ENST00000635846.1:c.729+46_729+51del	ENSP00000490035.1:n.729+46_729+51del
ENST00000643006.1:c.729+46_729+51del	ENSP00000496633.1:n.729+46_729+51del
ENST00000643784.1:c.*205+46_*205+51del	ENSP00000494944.1:n.*205+46_*205+51del
ENST00000647662.1:n.630+46_630+51del
ENST00000648071.1:c.*705+46_*705+51del	ENSP00000497513.1:n.*705+46_*705+51del
ENST00000649606.1:n.742+46_742+51del
ENST00000649895.1:n.947+46_947+51del
ENST00000650197.1:c.729+46_729+51del	ENSP00000496929.1:n.729+46_729+51del
ENST00000367435.3:c.729+46_729+51del	ENSP00000356405.3:n.729+46_729+51del
NM_024529.4:c.729+46_729+51del , LRG_507t1:c.729+46_729+51del	NP_078805.3:n.729+46_729+51del
XM_006711537.2:c.729+46_729+51del	XP_006711600.1:n.729+46_729+51del
XM_006711537.4:c.729+46_729+51del	XP_006711600.1:n.729+46_729+51del
NM_024529.5:c.729+46_729+51del MANE Select	NP_078805.3:n.729+46_729+51del