Canonical Allele Identifier: CA16611983
Gene: RAD50 HGNC NCBI

Linked Data

ClinVar Variation Id: 408356
ClinVar RCV Id: RCV000457701
dbSNP Id: rs1060501942

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132609298_132609302del , CM000667.2:g.132609298_132609302del GRCh38
NC_000005.9:g.131944990_131944994del , CM000667.1:g.131944990_131944994del GRCh37
NC_000005.8:g.131972889_131972893del NCBI36
NG_021151.1:g.57375_57379del
NG_021151.2:g.57322_57326del

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.2938_2942del MANE Select ENSP00000368100.4:p.Leu980Ter
ENST00000638452.2:c.2641_2645del ENSP00000492349.2:p.Leu881Ter
ENST00000638504.1:n.2546_2550del
ENST00000638568.2:c.2641_2645del ENSP00000491158.2:p.Leu881Ter
ENST00000639899.1:n.3457_3461del
ENST00000640655.2:c.2641_2645del ENSP00000491596.2:p.Leu881Ter
ENST00000651160.1:c.*1082_*1086del ENSP00000498829.1:n.*1082_*1086del
ENST00000651723.1:c.*3021_*3025del ENSP00000498237.1:n.*3021_*3025del
ENST00000378823.7:c.2938_2942del ENSP00000368100.4:p.Leu980Ter
ENST00000423956.5:c.*1124_*1128del ENSP00000390971.1:n.*1124_*1128del
ENST00000533482.5:c.*2564_*2568del ENSP00000431225.1:n.*2564_*2568del
NM_005732.3:c.2938_2942del NP_005723.2:p.Leu980Ter
NM_005732.4:c.2938_2942del MANE Select NP_005723.2:p.Leu980Ter