Canonical Allele Identifier: CA915942562
Gene: RAD50 HGNC NCBI
TH2LCRR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132642200_132642213del , CM000667.2:g.132642200_132642213del GRCh38
NC_000005.9:g.131977892_131977905del , CM000667.1:g.131977892_131977905del GRCh37
NC_000005.8:g.132005791_132005804del NCBI36
NG_021151.1:g.90277_90290del
NG_021151.2:g.90224_90237del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.3775_3788del (RAD50) MANE Select ENSP00000368100.4:p.Gln1259AlafsTer7
ENST00000638452.2:c.3478_3491del ENSP00000492349.2:p.Gln1160AlafsTer7
ENST00000638504.1:n.3383_3396del
ENST00000638568.2:c.3478_3491del ENSP00000491158.2:p.Gln1160AlafsTer7
ENST00000639899.1:n.4294_4307del
ENST00000640655.2:c.3478_3491del ENSP00000491596.2:p.Gln1160AlafsTer7
ENST00000651249.1:c.611_624del (RAD50)
ENST00000378823.7:c.3775_3788del (RAD50) ENSP00000368100.4:p.Gln1259AlafsTer7
ENST00000455677.1:c.388-805_388-792del (RAD50)
ENST00000533482.5:c.*3401_*3414del (RAD50) ENSP00000431225.1:n.*3401_*3414del
NM_005732.3:c.3775_3788del (RAD50) NP_005723.2:p.Gln1259AlafsTer7
NR_132125.1:n.174_187del (TH2LCRR)
NR_132126.1:n.175-3948_175-3935del (TH2LCRR)
NM_005732.4:c.3775_3788del (RAD50) MANE Select NP_005723.2:p.Gln1259AlafsTer7