Canonical Allele Identifier: CA2710357760

Gene: RAD50

Linked Data

• dbSNP Id: rs2149841186

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132588863del , CM000667.2:g.132588863del	GRCh38
NC_000005.9:g.131924555del , CM000667.1:g.131924555del	GRCh37
NC_000005.8:g.131952454del	NCBI36
NG_021151.1:g.36940del
NG_021151.2:g.36887del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1228del MANE Select	ENSP00000368100.4:p.Thr410LeufsTer5
ENST00000638452.2:c.931del	ENSP00000492349.2:p.Thr311LeufsTer5
ENST00000638504.1:n.914del
ENST00000638568.2:c.931del	ENSP00000491158.2:p.Thr311LeufsTer5
ENST00000639899.1:n.1747del
ENST00000640655.2:c.931del	ENSP00000491596.2:p.Thr311LeufsTer5
ENST00000651160.1:c.1228del	ENSP00000498829.1:p.Thr410LeufsTer5
ENST00000651541.1:c.931del	ENSP00000498795.1:p.Thr311LeufsTer5
ENST00000651658.1:n.1655del
ENST00000651723.1:c.*1311del	ENSP00000498237.1:n.*1311del
ENST00000652016.1:c.1228del	ENSP00000498267.1:p.Thr410LeufsTer5
ENST00000652485.1:c.1228del	ENSP00000498973.1:p.Thr410LeufsTer5
ENST00000378823.7:c.1228del	ENSP00000368100.4:p.Thr410LeufsTer5
ENST00000423956.5:c.1228del	ENSP00000390971.1:p.Thr410LeufsTer5
ENST00000453394.5:c.1228del	ENSP00000400049.1:p.Thr410LeufsTer5
ENST00000533482.5:c.*854del	ENSP00000431225.1:n.*854del
NM_005732.3:c.1228del	NP_005723.2:p.Thr410LeufsTer5
NM_005732.4:c.1228del MANE Select	NP_005723.2:p.Thr410LeufsTer5