Canonical Allele Identifier: CA1583252453
Gene: RAD50 HGNC NCBI
TH2LCRR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132637421_132637424delinsCATT , CM000667.2:g.132637421_132637424delinsCATT GRCh38
NC_000005.9:g.131973113_131973116delinsCATT , CM000667.1:g.131973113_131973116delinsCATT GRCh37
NC_000005.8:g.132001012_132001015delinsCATT NCBI36
NG_021151.1:g.85498_85501delinsCATT
NG_021151.2:g.85445_85448delinsCATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.3475+221_3475+224delinsCATT (RAD50) MANE Select ENSP00000368100.4:n.3475+221_3475+224delinsCATT
ENST00000638452.2:c.3178+221_3178+224delinsCATT ENSP00000492349.2:n.3178+221_3178+224delinsCATT
ENST00000638504.1:n.3083+221_3083+224delinsCATT
ENST00000638568.2:c.3178+221_3178+224delinsCATT ENSP00000491158.2:n.3178+221_3178+224delinsCATT
ENST00000639899.1:n.3994+221_3994+224delinsCATT
ENST00000640655.2:c.3178+221_3178+224delinsCATT ENSP00000491596.2:n.3178+221_3178+224delinsCATT
ENST00000651249.1:c.311+221_311+224delinsCATT (RAD50)
ENST00000378823.7:c.3475+221_3475+224delinsCATT (RAD50) ENSP00000368100.4:n.3475+221_3475+224delinsCATT
ENST00000455677.1:c.110+221_110+224delinsCATT (RAD50)
ENST00000533482.5:c.*3101+221_*3101+224delinsCATT (RAD50) ENSP00000431225.1:n.*3101+221_*3101+224delinsCATT
NM_005732.3:c.3475+221_3475+224delinsCATT (RAD50) NP_005723.2:n.3475+221_3475+224delinsCATT
NR_132124.1:n.153+734_153+737delinsAATG (TH2LCRR)
NM_005732.4:c.3475+221_3475+224delinsCATT (RAD50) MANE Select NP_005723.2:n.3475+221_3475+224delinsCATT