Canonical Allele Identifier: CA165331
Gene: RAD50 HGNC NCBI

Linked Data

ClinVar Variation Id: 141403
ClinVar RCV Id: RCV000129908
dbSNP Id: rs587781721

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132575917del , CM000667.2:g.132575917del GRCh38
NC_000005.9:g.131911609del , CM000667.1:g.131911609del GRCh37
NC_000005.8:g.131939508del NCBI36
NG_021151.1:g.23994del
NG_021151.2:g.23941del

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.354del MANE Select ENSP00000368100.4:p.Thr119LeufsTer11
ENST00000638452.2:c.57del ENSP00000492349.2:p.Thr20LeufsTer11
ENST00000638504.1:n.431del
ENST00000638568.2:c.57del ENSP00000491158.2:p.Thr20LeufsTer11
ENST00000639899.1:n.514del
ENST00000640655.2:c.57del ENSP00000491596.2:p.Thr20LeufsTer11
ENST00000651160.1:c.354del ENSP00000498829.1:p.Thr119LeufsTer11
ENST00000651541.1:c.57del ENSP00000498795.1:p.Thr20LeufsTer11
ENST00000651658.1:n.422del
ENST00000651723.1:c.*448+54del ENSP00000498237.1:n.*448+54del
ENST00000652016.1:c.354del ENSP00000498267.1:p.Thr119LeufsTer11
ENST00000652485.1:c.354del ENSP00000498973.1:p.Thr119LeufsTer11
ENST00000378823.7:c.354del ENSP00000368100.4:p.Thr119LeufsTer11
ENST00000416135.5:c.57del ENSP00000389515.1:p.Thr20LeufsTer11
ENST00000423956.5:c.354del ENSP00000390971.1:p.Thr119LeufsTer11
ENST00000453394.5:c.354del ENSP00000400049.1:p.Thr119LeufsTer11
ENST00000533482.5:c.300+54del ENSP00000431225.1:n.300+54del
NM_005732.3:c.354del NP_005723.2:p.Thr119LeufsTer11
NM_005732.4:c.354del MANE Select NP_005723.2:p.Thr119LeufsTer11