Allele Registry

Canonical Allele Identifier: CA342370

Gene: CDC73 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr1:g.193147903_193147904del

GRCh37 chr1:g.193117033_193117034del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000020885

RCV002260511

ClinVar Variation:

21687

dbSNP:

80356650

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193147903_193147904del , CM000663.2:g.193147903_193147904del	GRCh38
NC_000001.10:g.193117033_193117034del , CM000663.1:g.193117033_193117034del	GRCh37
NC_000001.9:g.191383656_191383657del	NCBI36
NG_012691.1:g.30946_30947del , LRG_507:g.30946_30947del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.766_767del MANE Select	ENSP00000356405.4:p.Val256LysfsTer10
ENST00000635846.1:c.729+5837_729+5838del	ENSP00000490035.1:n.729+5837_729+5838del
ENST00000643006.1:c.766_767del	ENSP00000496633.1:p.Val256LysfsTer10
ENST00000643784.1:c.242_243del	ENSP00000494944.1:n.242_243del
ENST00000647662.1:n.667_668del
ENST00000648071.1:c.742_743del	ENSP00000497513.1:n.742_743del
ENST00000649606.1:n.779_780del
ENST00000649895.1:n.984_985del
ENST00000650197.1:c.766_767del	ENSP00000496929.1:p.Val256LysfsTer10
ENST00000367435.3:c.766_767del	ENSP00000356405.3:p.Val256LysfsTer10
NM_024529.4:c.766_767del , LRG_507t1:c.766_767del	NP_078805.3:p.Val256LysfsTer10
XM_006711537.2:c.766_767del	XP_006711600.1:p.Val256LysfsTer10
XM_006711537.4:c.766_767del	XP_006711600.1:p.Val256LysfsTer10
NM_024529.5:c.766_767del MANE Select	NP_078805.3:p.Val256LysfsTer10

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