Canonical Allele Identifier: CA333189
Gene: RAD50 HGNC NCBI

Linked Data

ClinVar Variation Id: 141045
dbSNP Id: rs397507178

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132595768dup , CM000667.2:g.132595768dup GRCh38
NC_000005.9:g.131931460dup , CM000667.1:g.131931460dup GRCh37
NC_000005.8:g.131959359dup NCBI36
NG_021151.1:g.43845dup
NG_021151.2:g.43792dup

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.2165dup MANE Select ENSP00000368100.4:p.Glu723GlyfsTer5
ENST00000638452.2:c.1868dup ENSP00000492349.2:p.Glu624GlyfsTer5
ENST00000638504.1:n.1773dup
ENST00000638568.2:c.1868dup ENSP00000491158.2:p.Glu624GlyfsTer5
ENST00000639899.1:n.2684dup
ENST00000640655.2:c.1868dup ENSP00000491596.2:p.Glu624GlyfsTer5
ENST00000651160.1:c.*309dup ENSP00000498829.1:n.*309dup
ENST00000651658.1:n.2708dup
ENST00000651723.1:c.*2248dup ENSP00000498237.1:n.*2248dup
ENST00000652016.1:c.*382dup ENSP00000498267.1:n.*382dup
ENST00000652485.1:c.2198dup ENSP00000498973.1:p.Glu734GlyfsTer5
ENST00000378823.7:c.2165dup ENSP00000368100.4:p.Glu723GlyfsTer5
ENST00000423956.5:c.*351dup ENSP00000390971.1:n.*351dup
ENST00000496204.1:n.248dup
ENST00000533482.5:c.*1791dup ENSP00000431225.1:n.*1791dup
NM_005732.3:c.2165dup NP_005723.2:p.Glu723GlyfsTer5
NM_005732.4:c.2165dup MANE Select NP_005723.2:p.Glu723GlyfsTer5