Canonical Allele Identifier: CA2697546491

Gene: RAD50 TH2LCRR

Linked Data

• ClinVar Variation Id: 2755058
• ClinVar RCV Id: RCV003584269

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132642235_132642265dup , CM000667.2:g.132642235_132642265dup	GRCh38
NC_000005.9:g.131977927_131977957dup , CM000667.1:g.131977927_131977957dup	GRCh37
NC_000005.8:g.132005826_132005856dup	NCBI36
NG_021151.1:g.90312_90342dup
NG_021151.2:g.90259_90289dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.3810_3840dup (RAD50) MANE Select	ENSP00000368100.4:p.Glu1281Ter
ENST00000638452.2:c.3513_3543dup	ENSP00000492349.2:p.Glu1182Ter
ENST00000638504.1:n.3418_3448dup
ENST00000638568.2:c.3513_3543dup	ENSP00000491158.2:p.Glu1182Ter
ENST00000639899.1:n.4329_4359dup
ENST00000640655.2:c.3513_3543dup	ENSP00000491596.2:p.Glu1182Ter
ENST00000651249.1:c.646_676dup (RAD50)
ENST00000378823.7:c.3810_3840dup (RAD50)	ENSP00000368100.4:p.Glu1281Ter
ENST00000455677.1:c.388-770_388-740dup (RAD50)
ENST00000533482.5:c.*3436_*3466dup (RAD50)	ENSP00000431225.1:n.*3436_*3466dup
NM_005732.3:c.3810_3840dup (RAD50)	NP_005723.2:p.Glu1281Ter
NR_132125.1:n.122_152dup (TH2LCRR)
NR_132126.1:n.175-4000_175-3970dup (TH2LCRR)
NM_005732.4:c.3810_3840dup (RAD50) MANE Select	NP_005723.2:p.Glu1281Ter