Canonical Allele Identifier: CA916082764

Gene: RAD50

Linked Data

• ClinVar Variation Id: 834660
• ClinVar RCV Id: RCV001035395 ; RCV003467702
• dbSNP Id: rs1750646869
• gnomAD v4: 5-132588872-CAACT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132588873_132588876del , CM000667.2:g.132588873_132588876del	GRCh38
NC_000005.9:g.131924565_131924568del , CM000667.1:g.131924565_131924568del	GRCh37
NC_000005.8:g.131952464_131952467del	NCBI36
NG_021151.1:g.36950_36953del
NG_021151.2:g.36897_36900del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1238_1241del MANE Select	ENSP00000368100.4:p.Gln413ArgfsTer2
ENST00000638452.2:c.941_944del	ENSP00000492349.2:p.Gln314ArgfsTer2
ENST00000638504.1:n.924_927del
ENST00000638568.2:c.941_944del	ENSP00000491158.2:p.Gln314ArgfsTer2
ENST00000639899.1:n.1757_1760del
ENST00000640655.2:c.941_944del	ENSP00000491596.2:p.Gln314ArgfsTer2
ENST00000651160.1:c.1238_1241del	ENSP00000498829.1:p.Gln413ArgfsTer2
ENST00000651541.1:c.941_944del	ENSP00000498795.1:p.Gln314ArgfsTer2
ENST00000651658.1:n.1665_1668del
ENST00000651723.1:c.*1321_*1324del	ENSP00000498237.1:n.*1321_*1324del
ENST00000652016.1:c.1238_1241del	ENSP00000498267.1:p.Gln413ArgfsTer2
ENST00000652485.1:c.1238_1241del	ENSP00000498973.1:p.Gln413ArgfsTer2
ENST00000378823.7:c.1238_1241del	ENSP00000368100.4:p.Gln413ArgfsTer2
ENST00000423956.5:c.1238_1241del	ENSP00000390971.1:p.Gln413ArgfsTer2
ENST00000453394.5:c.1238_1241del	ENSP00000400049.1:p.Gln413ArgfsTer2
ENST00000533482.5:c.*864_*867del	ENSP00000431225.1:n.*864_*867del
NM_005732.3:c.1238_1241del	NP_005723.2:p.Gln413ArgfsTer2
NM_005732.4:c.1238_1241del MANE Select	NP_005723.2:p.Gln413ArgfsTer2