Canonical Allele Identifier: CA645559197
Gene: RAD50 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132594924del , CM000667.2:g.132594924del GRCh38
NC_000005.9:g.131930616del , CM000667.1:g.131930616del GRCh37
NC_000005.8:g.131958515del NCBI36
NG_021151.1:g.43001del
NG_021151.2:g.42948del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.1849del MANE Select ENSP00000368100.4:p.Arg617GlufsTer26
ENST00000638452.2:c.1552del ENSP00000492349.2:p.Arg518GlufsTer26
ENST00000638504.1:n.1480-180del
ENST00000638568.2:c.1552del ENSP00000491158.2:p.Arg518GlufsTer26
ENST00000639899.1:n.2368del
ENST00000640655.2:c.1552del ENSP00000491596.2:p.Arg518GlufsTer26
ENST00000651160.1:c.*16-180del ENSP00000498829.1:n.*16-180del
ENST00000651658.1:n.2392del
ENST00000651723.1:c.*1932del ENSP00000498237.1:n.*1932del
ENST00000652016.1:c.*89-180del ENSP00000498267.1:n.*89-180del
ENST00000652485.1:c.1882del ENSP00000498973.1:p.Arg628GlufsTer26
ENST00000378823.7:c.1849del ENSP00000368100.4:p.Arg617GlufsTer26
ENST00000423956.5:c.*35del ENSP00000390971.1:n.*35del
ENST00000453394.5:c.1666del ENSP00000400049.1:p.Arg556GlufsTer26
ENST00000533482.5:c.*1475del ENSP00000431225.1:n.*1475del
NM_005732.3:c.1849del NP_005723.2:p.Arg617GlufsTer26
NM_005732.4:c.1849del MANE Select NP_005723.2:p.Arg617GlufsTer26