Canonical Allele Identifier: CA2697546494

Gene: RAD50

Linked Data

• ClinVar Variation Id: 2757180
• ClinVar RCV Id: RCV003584286

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604966del , CM000667.2:g.132604966del	GRCh38
NC_000005.9:g.131940658del , CM000667.1:g.131940658del	GRCh37
NC_000005.8:g.131968557del	NCBI36
NG_021151.1:g.53043del
NG_021151.2:g.52990del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2685del MANE Select	ENSP00000368100.4:p.Thr896LeufsTer10
ENST00000638452.2:c.2388del	ENSP00000492349.2:p.Thr797LeufsTer10
ENST00000638504.1:n.2293del
ENST00000638568.2:c.2388del	ENSP00000491158.2:p.Thr797LeufsTer10
ENST00000639899.1:n.3204del
ENST00000640655.2:c.2388del	ENSP00000491596.2:p.Thr797LeufsTer10
ENST00000651160.1:c.*829del	ENSP00000498829.1:n.*829del
ENST00000651723.1:c.*2768del	ENSP00000498237.1:n.*2768del
ENST00000652016.1:c.*902del	ENSP00000498267.1:n.*902del
ENST00000378823.7:c.2685del	ENSP00000368100.4:p.Thr896LeufsTer10
ENST00000423956.5:c.*871del	ENSP00000390971.1:n.*871del
ENST00000533482.5:c.*2311del	ENSP00000431225.1:n.*2311del
NM_005732.3:c.2685del	NP_005723.2:p.Thr896LeufsTer10
NM_005732.4:c.2685del MANE Select	NP_005723.2:p.Thr896LeufsTer10