Canonical Allele Identifier: CA2580072703

Gene: RAD50

Linked Data

• ClinVar Variation Id: 2013861
• ClinVar RCV Id: RCV002829725

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609167_132609168delinsTT , CM000667.2:g.132609167_132609168delinsTT	GRCh38
NC_000005.9:g.131944859_131944860delinsTT , CM000667.1:g.131944859_131944860delinsTT	GRCh37
NC_000005.8:g.131972758_131972759delinsTT	NCBI36
NG_021151.1:g.57244_57245delinsTT
NG_021151.2:g.57191_57192delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2880_2881delinsTT MANE Select	ENSP00000368100.4:p.Ile961Phe
ENST00000638452.2:c.2583_2584delinsTT	ENSP00000492349.2:p.Ile862Phe
ENST00000638504.1:n.2488_2489delinsTT
ENST00000638568.2:c.2583_2584delinsTT	ENSP00000491158.2:p.Ile862Phe
ENST00000639899.1:n.3399_3400delinsTT
ENST00000640655.2:c.2583_2584delinsTT	ENSP00000491596.2:p.Ile862Phe
ENST00000651160.1:c.*1024_*1025delinsTT	ENSP00000498829.1:n.*1024_*1025delinsTT
ENST00000651723.1:c.*2963_*2964delinsTT	ENSP00000498237.1:n.*2963_*2964delinsTT
ENST00000378823.7:c.2880_2881delinsTT	ENSP00000368100.4:p.Ile961Phe
ENST00000423956.5:c.*1066_*1067delinsTT	ENSP00000390971.1:n.*1066_*1067delinsTT
ENST00000533482.5:c.*2506_*2507delinsTT	ENSP00000431225.1:n.*2506_*2507delinsTT
NM_005732.3:c.2880_2881delinsTT	NP_005723.2:p.Ile961Phe
NM_005732.4:c.2880_2881delinsTT MANE Select	NP_005723.2:p.Ile961Phe