Canonical Allele Identifier: CA1583254631

Gene: RAD50 TH2LCRR

Linked Data

• ClinVar Variation Id: 2150970
• ClinVar RCV Id: RCV003072012
• dbSNP Id: rs1751742797

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132642280dup , CM000667.2:g.132642280dup	GRCh38
NC_000005.9:g.131977972dup , CM000667.1:g.131977972dup	GRCh37
NC_000005.8:g.132005871dup	NCBI36
NG_021151.1:g.90357dup
NG_021151.2:g.90304dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3855dup (RAD50) MANE Select	ENSP00000368100.4:p.Phe1286IlefsTer5
ENST00000638452.2:c.3558dup	ENSP00000492349.2:p.Phe1187IlefsTer5
ENST00000638504.1:n.3463dup
ENST00000638568.2:c.3558dup	ENSP00000491158.2:p.Phe1187IlefsTer5
ENST00000639899.1:n.4374dup
ENST00000640655.2:c.3558dup	ENSP00000491596.2:p.Phe1187IlefsTer5
ENST00000651249.1:c.691dup (RAD50)
ENST00000378823.7:c.3855dup (RAD50)	ENSP00000368100.4:p.Phe1286IlefsTer5
ENST00000455677.1:c.388-725dup (RAD50)
ENST00000533482.5:c.*3481dup (RAD50)	ENSP00000431225.1:n.*3481dup
NM_005732.3:c.3855dup (RAD50)	NP_005723.2:p.Phe1286IlefsTer5
NR_132125.1:n.109dup (TH2LCRR)
NR_132126.1:n.175-4013dup (TH2LCRR)
NM_005732.4:c.3855dup (RAD50) MANE Select	NP_005723.2:p.Phe1286IlefsTer5