Canonical Allele Identifier: CA10578515

Gene: RAD50

Linked Data

• ClinVar Variation Id: 233055
• ClinVar RCV Id: RCV000223038
• dbSNP Id: rs876660160
• MyVariant Identifiers: chr5:g.131924495_131924496del (hg19) ; chr5:g.132588803_132588804del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132588803_132588804del , CM000667.2:g.132588803_132588804del	GRCh38
NC_000005.9:g.131924495_131924496del , CM000667.1:g.131924495_131924496del	GRCh37
NC_000005.8:g.131952394_131952395del	NCBI36
NG_021151.1:g.36880_36881del
NG_021151.2:g.36827_36828del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1168_1169del MANE Select	ENSP00000368100.4:p.Glu390LysfsTer4
ENST00000638452.2:c.871_872del	ENSP00000492349.2:p.Glu291LysfsTer4
ENST00000638504.1:n.854_855del
ENST00000638568.2:c.871_872del	ENSP00000491158.2:p.Glu291LysfsTer4
ENST00000639899.1:n.1687_1688del
ENST00000640655.2:c.871_872del	ENSP00000491596.2:p.Glu291LysfsTer4
ENST00000651160.1:c.1168_1169del	ENSP00000498829.1:p.Glu390LysfsTer4
ENST00000651541.1:c.871_872del	ENSP00000498795.1:p.Glu291LysfsTer4
ENST00000651658.1:n.1595_1596del
ENST00000651723.1:c.*1251_*1252del	ENSP00000498237.1:n.*1251_*1252del
ENST00000652016.1:c.1168_1169del	ENSP00000498267.1:p.Glu390LysfsTer4
ENST00000652485.1:c.1168_1169del	ENSP00000498973.1:p.Glu390LysfsTer4
ENST00000378823.7:c.1168_1169del	ENSP00000368100.4:p.Glu390LysfsTer4
ENST00000423956.5:c.1168_1169del	ENSP00000390971.1:p.Glu390LysfsTer4
ENST00000453394.5:c.1168_1169del	ENSP00000400049.1:p.Glu390LysfsTer4
ENST00000487596.1:n.734_735del
ENST00000533482.5:c.*794_*795del	ENSP00000431225.1:n.*794_*795del
NM_005732.3:c.1168_1169del	NP_005723.2:p.Glu390LysfsTer4
NM_005732.4:c.1168_1169del MANE Select	NP_005723.2:p.Glu390LysfsTer4