Canonical Allele Identifier: CA2675220141
Gene: RAD50 HGNC NCBI
TH2LCRR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132642207_132642221dup , CM000667.2:g.132642207_132642221dup GRCh38
NC_000005.9:g.131977899_131977913dup , CM000667.1:g.131977899_131977913dup GRCh37
NC_000005.8:g.132005798_132005812dup NCBI36
NG_021151.1:g.90284_90298dup
NG_021151.2:g.90231_90245dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.3782_3796dup (RAD50) MANE Select ENSP00000368100.4:p.Leu1265_Val1266insAspPheGlnLeuLeu
ENST00000638452.2:c.3485_3499dup ENSP00000492349.2:p.Leu1166_Val1167insAspPheGlnLeuLeu
ENST00000638504.1:n.3390_3404dup
ENST00000638568.2:c.3485_3499dup ENSP00000491158.2:p.Leu1166_Val1167insAspPheGlnLeuLeu
ENST00000639899.1:n.4301_4315dup
ENST00000640655.2:c.3485_3499dup ENSP00000491596.2:p.Leu1166_Val1167insAspPheGlnLeuLeu
ENST00000651249.1:c.618_632dup (RAD50)
ENST00000378823.7:c.3782_3796dup (RAD50) ENSP00000368100.4:p.Leu1265_Val1266insAspPheGlnLeuLeu
ENST00000455677.1:c.388-798_388-784dup (RAD50)
ENST00000533482.5:c.*3408_*3422dup (RAD50) ENSP00000431225.1:n.*3408_*3422dup
NM_005732.3:c.3782_3796dup (RAD50) NP_005723.2:p.Leu1265_Val1266insAspPheGlnLeuLeu
NR_132125.1:n.166_180dup (TH2LCRR)
NR_132126.1:n.175-3956_175-3942dup (TH2LCRR)
NM_005732.4:c.3782_3796dup (RAD50) MANE Select NP_005723.2:p.Leu1265_Val1266insAspPheGlnLeuLeu