Canonical Allele Identifier: CA2573139103
Gene: RAD50 HGNC NCBI
TH2LCRR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132642211_132642212delinsTT , CM000667.2:g.132642211_132642212delinsTT GRCh38
NC_000005.9:g.131977903_131977904delinsTT , CM000667.1:g.131977903_131977904delinsTT GRCh37
NC_000005.8:g.132005802_132005803delinsTT NCBI36
NG_021151.1:g.90288_90289delinsTT
NG_021151.2:g.90235_90236delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.3786_3787delinsTT (RAD50) MANE Select ENSP00000368100.4:p.Phe1263Ter
ENST00000638452.2:c.3489_3490delinsTT ENSP00000492349.2:p.Phe1164Ter
ENST00000638504.1:n.3394_3395delinsTT
ENST00000638568.2:c.3489_3490delinsTT ENSP00000491158.2:p.Phe1164Ter
ENST00000639899.1:n.4305_4306delinsTT
ENST00000640655.2:c.3489_3490delinsTT ENSP00000491596.2:p.Phe1164Ter
ENST00000651249.1:c.622_623delinsTT (RAD50)
ENST00000378823.7:c.3786_3787delinsTT (RAD50) ENSP00000368100.4:p.Phe1263Ter
ENST00000455677.1:c.388-794_388-793delinsTT (RAD50)
ENST00000533482.5:c.*3412_*3413delinsTT (RAD50) ENSP00000431225.1:n.*3412_*3413delinsTT
NM_005732.3:c.3786_3787delinsTT (RAD50) NP_005723.2:p.Phe1263Ter
NR_132125.1:n.175_176delinsAA (TH2LCRR)
NR_132126.1:n.175-3947_175-3946delinsAA (TH2LCRR)
NM_005732.4:c.3786_3787delinsTT (RAD50) MANE Select NP_005723.2:p.Phe1263Ter