Canonical Allele Identifier: CA915942564
Gene: RAD50 HGNC NCBI
TH2LCRR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132642206_132642209dup , CM000667.2:g.132642206_132642209dup GRCh38
NC_000005.9:g.131977898_131977901dup , CM000667.1:g.131977898_131977901dup GRCh37
NC_000005.8:g.132005797_132005800dup NCBI36
NG_021151.1:g.90283_90286dup
NG_021151.2:g.90230_90233dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.3781_3784dup (RAD50) MANE Select ENSP00000368100.4:p.Phe1262Ter
ENST00000638452.2:c.3484_3487dup ENSP00000492349.2:p.Phe1163Ter
ENST00000638504.1:n.3389_3392dup
ENST00000638568.2:c.3484_3487dup ENSP00000491158.2:p.Phe1163Ter
ENST00000639899.1:n.4300_4303dup
ENST00000640655.2:c.3484_3487dup ENSP00000491596.2:p.Phe1163Ter
ENST00000651249.1:c.617_620dup (RAD50)
ENST00000378823.7:c.3781_3784dup (RAD50) ENSP00000368100.4:p.Phe1262Ter
ENST00000455677.1:c.388-799_388-796dup (RAD50)
ENST00000533482.5:c.*3407_*3410dup (RAD50) ENSP00000431225.1:n.*3407_*3410dup
NM_005732.3:c.3781_3784dup (RAD50) NP_005723.2:p.Phe1262Ter
NR_132125.1:n.179_182dup (TH2LCRR)
NR_132126.1:n.175-3943_175-3940dup (TH2LCRR)
NM_005732.4:c.3781_3784dup (RAD50) MANE Select NP_005723.2:p.Phe1262Ter