Canonical Allele Identifier: CA2499217575

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1070460
• ClinVar RCV Id: RCV001382603
• dbSNP Id: rs2149841547

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132589780_132589781delinsTT , CM000667.2:g.132589780_132589781delinsTT	GRCh38
NC_000005.9:g.131925472_131925473delinsTT , CM000667.1:g.131925472_131925473delinsTT	GRCh37
NC_000005.8:g.131953371_131953372delinsTT	NCBI36
NG_021151.1:g.37857_37858delinsTT
NG_021151.2:g.37804_37805delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1395_1396delinsTT MANE Select	ENSP00000368100.4:p.Gln465HisfsTer2
ENST00000638452.2:c.1098_1099delinsTT	ENSP00000492349.2:p.Gln366HisfsTer2
ENST00000638504.1:n.1081_1082delinsTT
ENST00000638568.2:c.1098_1099delinsTT	ENSP00000491158.2:p.Gln366HisfsTer2
ENST00000639899.1:n.1914_1915delinsTT
ENST00000640655.2:c.1098_1099delinsTT	ENSP00000491596.2:p.Gln366HisfsTer2
ENST00000651160.1:c.1395_1396delinsTT	ENSP00000498829.1:p.Gln465HisfsTer2
ENST00000651541.1:c.1098_1099delinsTT	ENSP00000498795.1:p.Gln366HisfsTer2
ENST00000651658.1:n.1822_1823delinsTT
ENST00000651723.1:c.*1478_*1479delinsTT	ENSP00000498237.1:n.*1478_*1479delinsTT
ENST00000652016.1:c.1395_1396delinsTT	ENSP00000498267.1:p.Gln465HisfsTer2
ENST00000652485.1:c.1395_1396delinsTT	ENSP00000498973.1:p.Gln465HisfsTer2
ENST00000378823.7:c.1395_1396delinsTT	ENSP00000368100.4:p.Gln465HisfsTer2
ENST00000423956.5:c.1395_1396delinsTT	ENSP00000390971.1:p.Gln465HisfsTer2
ENST00000453394.5:c.1395_1396delinsTT	ENSP00000400049.1:p.Gln465HisfsTer2
ENST00000533482.5:c.*1021_*1022delinsTT	ENSP00000431225.1:n.*1021_*1022delinsTT
NM_005732.3:c.1395_1396delinsTT	NP_005723.2:p.Gln465HisfsTer2
NM_005732.4:c.1395_1396delinsTT MANE Select	NP_005723.2:p.Gln465HisfsTer2