Canonical Allele Identifier: CA2573139105

Gene: RAD50 TH2LCRR

Linked Data

• ClinVar Variation Id: 1413977
• ClinVar RCV Id: RCV001928452
• dbSNP Id: rs2149866975

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132642277_132642280del , CM000667.2:g.132642277_132642280del	GRCh38
NC_000005.9:g.131977969_131977972del , CM000667.1:g.131977969_131977972del	GRCh37
NC_000005.8:g.132005868_132005871del	NCBI36
NG_021151.1:g.90354_90357del
NG_021151.2:g.90301_90304del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3852_3855del (RAD50) MANE Select	ENSP00000368100.4:p.Glu1284AspfsTer16
ENST00000638452.2:c.3555_3558del	ENSP00000492349.2:p.Glu1185AspfsTer16
ENST00000638504.1:n.3460_3463del
ENST00000638568.2:c.3555_3558del	ENSP00000491158.2:p.Glu1185AspfsTer16
ENST00000639899.1:n.4371_4374del
ENST00000640655.2:c.3555_3558del	ENSP00000491596.2:p.Glu1185AspfsTer16
ENST00000651249.1:c.688_691del (RAD50)
ENST00000378823.7:c.3852_3855del (RAD50)	ENSP00000368100.4:p.Glu1284AspfsTer16
ENST00000455677.1:c.388-728_388-725del (RAD50)
ENST00000533482.5:c.*3478_*3481del (RAD50)	ENSP00000431225.1:n.*3478_*3481del
NM_005732.3:c.3852_3855del (RAD50)	NP_005723.2:p.Glu1284AspfsTer16
NR_132125.1:n.108_111del (TH2LCRR)
NR_132126.1:n.175-4014_175-4011del (TH2LCRR)
NM_005732.4:c.3852_3855del (RAD50) MANE Select	NP_005723.2:p.Glu1284AspfsTer16