Canonical Allele Identifier: CA2606574590

Gene: CDC73

Linked Data

• gnomAD v3: 1-193141975-TTG-T
• gnomAD v4: 1-193141975-TTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193141978_193141979del , CM000663.2:g.193141978_193141979del	GRCh38
NC_000001.10:g.193111108_193111109del , CM000663.1:g.193111108_193111109del	GRCh37
NC_000001.9:g.191377731_191377732del	NCBI36
NG_012691.1:g.25021_25022del , LRG_507:g.25021_25022del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.641_642del MANE Select	ENSP00000356405.4:p.Val214GlyfsTer3
ENST00000635846.1:c.641_642del	ENSP00000490035.1:p.Val214GlyfsTer3
ENST00000643006.1:c.641_642del	ENSP00000496633.1:p.Val214GlyfsTer3
ENST00000643784.1:c.*117_*118del	ENSP00000494944.1:n.*117_*118del
ENST00000647662.1:n.542_543del
ENST00000648071.1:c.*617_*618del	ENSP00000497513.1:n.*617_*618del
ENST00000649606.1:n.654_655del
ENST00000649895.1:n.859_860del
ENST00000650197.1:c.641_642del	ENSP00000496929.1:p.Val214GlyfsTer3
ENST00000367435.3:c.641_642del	ENSP00000356405.3:p.Val214GlyfsTer3
NM_024529.4:c.641_642del , LRG_507t1:c.641_642del	NP_078805.3:p.Val214GlyfsTer3
XM_006711537.2:c.641_642del	XP_006711600.1:p.Val214GlyfsTer3
XM_006711537.4:c.641_642del	XP_006711600.1:p.Val214GlyfsTer3
NM_024529.5:c.641_642del MANE Select	NP_078805.3:p.Val214GlyfsTer3