Canonical Allele Identifier: CA1583245899

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1443616
• ClinVar RCV Id: RCV001955697
• dbSNP Id: rs1750935936

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604021_132604023del , CM000667.2:g.132604021_132604023del	GRCh38
NC_000005.9:g.131939713_131939715del , CM000667.1:g.131939713_131939715del	GRCh37
NC_000005.8:g.131967612_131967614del	NCBI36
NG_021151.1:g.52098_52100del
NG_021151.2:g.52045_52047del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2499_2501del MANE Select	ENSP00000368100.4:p.Glu834del
ENST00000638452.2:c.2202_2204del	ENSP00000492349.2:p.Glu735del
ENST00000638504.1:n.2107_2109del
ENST00000638568.2:c.2202_2204del	ENSP00000491158.2:p.Glu735del
ENST00000639899.1:n.3018_3020del
ENST00000640655.2:c.2202_2204del	ENSP00000491596.2:p.Glu735del
ENST00000651160.1:c.*643_*645del	ENSP00000498829.1:n.*643_*645del
ENST00000651658.1:n.3042_3044del
ENST00000651723.1:c.*2582_*2584del	ENSP00000498237.1:n.*2582_*2584del
ENST00000652016.1:c.*716_*718del	ENSP00000498267.1:n.*716_*718del
ENST00000652485.1:c.2532_2534del	ENSP00000498973.1:p.Glu845del
ENST00000378823.7:c.2499_2501del	ENSP00000368100.4:p.Glu834del
ENST00000423956.5:c.*685_*687del	ENSP00000390971.1:n.*685_*687del
ENST00000533482.5:c.*2125_*2127del	ENSP00000431225.1:n.*2125_*2127del
NM_005732.3:c.2499_2501del	NP_005723.2:p.Glu834del
NM_005732.4:c.2499_2501del MANE Select	NP_005723.2:p.Glu834del