Canonical Allele Identifier: CA1583254225
Gene: RAD50 HGNC NCBI
TH2LCRR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132641342_132641343delinsGT , CM000667.2:g.132641342_132641343delinsGT GRCh38
NC_000005.9:g.131977034_131977035delinsGT , CM000667.1:g.131977034_131977035delinsGT GRCh37
NC_000005.8:g.132004933_132004934delinsGT NCBI36
NG_021151.1:g.89419_89420delinsGT
NG_021151.2:g.89366_89367delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.3752+537_3752+538delinsGT (RAD50) MANE Select ENSP00000368100.4:n.3752+537_3752+538delinsGT
ENST00000638452.2:c.3455+537_3455+538delinsGT ENSP00000492349.2:n.3455+537_3455+538delinsGT
ENST00000638504.1:n.3360+537_3360+538delinsGT
ENST00000638568.2:c.3455+537_3455+538delinsGT ENSP00000491158.2:n.3455+537_3455+538delinsGT
ENST00000639899.1:n.4271+537_4271+538delinsGT
ENST00000640655.2:c.3455+537_3455+538delinsGT ENSP00000491596.2:n.3455+537_3455+538delinsGT
ENST00000651249.1:c.588+537_588+538delinsGT (RAD50)
ENST00000378823.7:c.3752+537_3752+538delinsGT (RAD50) ENSP00000368100.4:n.3752+537_3752+538delinsGT
ENST00000455677.1:c.387+537_387+538delinsGT (RAD50)
ENST00000533482.5:c.*3378+537_*3378+538delinsGT (RAD50) ENSP00000431225.1:n.*3378+537_*3378+538delinsGT
NM_005732.3:c.3752+537_3752+538delinsGT (RAD50) NP_005723.2:n.3752+537_3752+538delinsGT
NR_132124.1:n.45+403_45+404delinsAC (TH2LCRR)
NR_132125.1:n.189+855_189+856delinsAC (TH2LCRR)
NR_132126.1:n.175-3078_175-3077delinsAC (TH2LCRR)
XR_427771.1:n.426+403_426+404delinsAC (TH2LCRR)
NM_005732.4:c.3752+537_3752+538delinsGT (RAD50) MANE Select NP_005723.2:n.3752+537_3752+538delinsGT