Canonical Allele Identifier: CA190897
Gene: RAD50 HGNC NCBI

Linked Data

ClinVar Variation Id: 185058
dbSNP Id: rs786201897

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132604039dup , CM000667.2:g.132604039dup GRCh38
NC_000005.9:g.131939731dup , CM000667.1:g.131939731dup GRCh37
NC_000005.8:g.131967630dup NCBI36
NG_021151.1:g.52116dup
NG_021151.2:g.52063dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.2517dup MANE Select ENSP00000368100.4:p.Asp840ArgfsTer5
ENST00000638452.2:c.2220dup ENSP00000492349.2:p.Asp741ArgfsTer5
ENST00000638504.1:n.2125dup
ENST00000638568.2:c.2220dup ENSP00000491158.2:p.Asp741ArgfsTer5
ENST00000639899.1:n.3036dup
ENST00000640655.2:c.2220dup ENSP00000491596.2:p.Asp741ArgfsTer5
ENST00000651160.1:c.*661dup ENSP00000498829.1:n.*661dup
ENST00000651723.1:c.*2600dup ENSP00000498237.1:n.*2600dup
ENST00000652016.1:c.*734dup ENSP00000498267.1:n.*734dup
ENST00000652485.1:c.2550dup ENSP00000498973.1:p.Asp851ArgfsTer5
ENST00000378823.7:c.2517dup ENSP00000368100.4:p.Asp840ArgfsTer5
ENST00000423956.5:c.*703dup ENSP00000390971.1:n.*703dup
ENST00000533482.5:c.*2143dup ENSP00000431225.1:n.*2143dup
NM_005732.3:c.2517dup NP_005723.2:p.Asp840ArgfsTer5
NM_005732.4:c.2517dup MANE Select NP_005723.2:p.Asp840ArgfsTer5