Canonical Allele Identifier: CA2838031944

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609303_132609306del , CM000667.2:g.132609303_132609306del	GRCh38
NC_000005.9:g.131944995_131944998del , CM000667.1:g.131944995_131944998del	GRCh37
NC_000005.8:g.131972894_131972897del	NCBI36
NG_021151.1:g.57380_57383del
NG_021151.2:g.57327_57330del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2943_2946del MANE Select	ENSP00000368100.4:p.Asn981LysfsTer2
ENST00000638452.2:c.2646_2649del	ENSP00000492349.2:p.Asn882LysfsTer2
ENST00000638504.1:n.2551_2554del
ENST00000638568.2:c.2646_2649del	ENSP00000491158.2:p.Asn882LysfsTer2
ENST00000639899.1:n.3462_3465del
ENST00000640655.2:c.2646_2649del	ENSP00000491596.2:p.Asn882LysfsTer2
ENST00000651160.1:c.*1087_*1090del	ENSP00000498829.1:n.*1087_*1090del
ENST00000651723.1:c.*3026_*3029del	ENSP00000498237.1:n.*3026_*3029del
ENST00000378823.7:c.2943_2946del	ENSP00000368100.4:p.Asn981LysfsTer2
ENST00000423956.5:c.*1129_*1132del	ENSP00000390971.1:n.*1129_*1132del
ENST00000533482.5:c.*2569_*2572del	ENSP00000431225.1:n.*2569_*2572del
NM_005732.3:c.2943_2946del	NP_005723.2:p.Asn981LysfsTer2
NM_005732.4:c.2943_2946del MANE Select	NP_005723.2:p.Asn981LysfsTer2