Canonical Allele Identifier: CA166108
Gene: RAD50 HGNC NCBI

Linked Data

ClinVar Variation Id: 141677
dbSNP Id: rs587781930

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132608685_132608688del , CM000667.2:g.132608685_132608688del GRCh38
NC_000005.9:g.131944377_131944380del , CM000667.1:g.131944377_131944380del GRCh37
NC_000005.8:g.131972276_131972279del NCBI36
NG_021151.1:g.56762_56765del
NG_021151.2:g.56709_56712del

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.2789_2792del MANE Select ENSP00000368100.4:p.Ile930ThrfsTer9
ENST00000638452.2:c.2492_2495del ENSP00000492349.2:p.Ile831ThrfsTer9
ENST00000638504.1:n.2397_2400del
ENST00000638568.2:c.2492_2495del ENSP00000491158.2:p.Ile831ThrfsTer9
ENST00000639899.1:n.3308_3311del
ENST00000640655.2:c.2492_2495del ENSP00000491596.2:p.Ile831ThrfsTer9
ENST00000651160.1:c.*933_*936del ENSP00000498829.1:n.*933_*936del
ENST00000651723.1:c.*2872_*2875del ENSP00000498237.1:n.*2872_*2875del
ENST00000378823.7:c.2789_2792del ENSP00000368100.4:p.Ile930ThrfsTer9
ENST00000423956.5:c.*975_*978del ENSP00000390971.1:n.*975_*978del
ENST00000533482.5:c.*2415_*2418del ENSP00000431225.1:n.*2415_*2418del
NM_005732.3:c.2789_2792del NP_005723.2:p.Ile930ThrfsTer9
NM_005732.4:c.2789_2792del MANE Select NP_005723.2:p.Ile930ThrfsTer9