Canonical Allele Identifier: CA1081661403
Gene: RAD50 HGNC NCBI
TH2LCRR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132637515_132637522dup , CM000667.2:g.132637515_132637522dup GRCh38
NC_000005.9:g.131973207_131973214dup , CM000667.1:g.131973207_131973214dup GRCh37
NC_000005.8:g.132001106_132001113dup NCBI36
NG_021151.1:g.85592_85599dup
NG_021151.2:g.85539_85546dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.3475+315_3475+322dup (RAD50) MANE Select ENSP00000368100.4:n.3475+315_3475+322dup
ENST00000638452.2:c.3178+315_3178+322dup ENSP00000492349.2:n.3178+315_3178+322dup
ENST00000638504.1:n.3083+315_3083+322dup
ENST00000638568.2:c.3178+315_3178+322dup ENSP00000491158.2:n.3178+315_3178+322dup
ENST00000639899.1:n.3994+315_3994+322dup
ENST00000640655.2:c.3178+315_3178+322dup ENSP00000491596.2:n.3178+315_3178+322dup
ENST00000651249.1:c.311+315_311+322dup (RAD50)
ENST00000378823.7:c.3475+315_3475+322dup (RAD50) ENSP00000368100.4:n.3475+315_3475+322dup
ENST00000455677.1:c.110+315_110+322dup (RAD50)
ENST00000533482.5:c.*3101+315_*3101+322dup (RAD50) ENSP00000431225.1:n.*3101+315_*3101+322dup
NM_005732.3:c.3475+315_3475+322dup (RAD50) NP_005723.2:n.3475+315_3475+322dup
NR_132124.1:n.153+638_153+645dup (TH2LCRR)
NM_005732.4:c.3475+315_3475+322dup (RAD50) MANE Select NP_005723.2:n.3475+315_3475+322dup