Canonical Allele Identifier: CA1583254565
Gene: RAD50 HGNC NCBI
TH2LCRR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132642183_132642184delinsTA , CM000667.2:g.132642183_132642184delinsTA GRCh38
NC_000005.9:g.131977875_131977876delinsTA , CM000667.1:g.131977875_131977876delinsTA GRCh37
NC_000005.8:g.132005774_132005775delinsTA NCBI36
NG_021151.1:g.90260_90261delinsTA
NG_021151.2:g.90207_90208delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.3758_3759delinsTA (RAD50) MANE Select ENSP00000368100.4:p.Ile1253=
ENST00000638452.2:c.3461_3462delinsTA ENSP00000492349.2:p.Ile1154=
ENST00000638504.1:n.3366_3367delinsTA
ENST00000638568.2:c.3461_3462delinsTA ENSP00000491158.2:p.Ile1154=
ENST00000639899.1:n.4277_4278delinsTA
ENST00000640655.2:c.3461_3462delinsTA ENSP00000491596.2:p.Ile1154=
ENST00000651249.1:c.594_595delinsTA (RAD50)
ENST00000378823.7:c.3758_3759delinsTA (RAD50) ENSP00000368100.4:p.Ile1253=
ENST00000455677.1:c.388-822_388-821delinsTA (RAD50)
ENST00000533482.5:c.*3384_*3385delinsTA (RAD50) ENSP00000431225.1:n.*3384_*3385delinsTA
NM_005732.3:c.3758_3759delinsTA (RAD50) NP_005723.2:p.Ile1253=
NR_132125.1:n.189+14_189+15delinsTA (TH2LCRR)
NR_132126.1:n.175-3919_175-3918delinsTA (TH2LCRR)
NM_005732.4:c.3758_3759delinsTA (RAD50) MANE Select NP_005723.2:p.Ile1253=