Canonical Allele Identifier: CA1583234196
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132618552_132618553delinsAT , CM000667.2:g.132618552_132618553delinsAT GRCh38
NC_000005.9:g.131954244_131954245delinsAT , CM000667.1:g.131954244_131954245delinsAT GRCh37
NC_000005.8:g.131982143_131982144delinsAT NCBI36
NG_021151.1:g.66629_66630delinsAT
NG_021151.2:g.66576_66577delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.3389+258_3389+259delinsAT MANE Select ENSP00000368100.4:n.3389+258_3389+259delinsAT
ENST00000638452.2:c.3092+258_3092+259delinsAT ENSP00000492349.2:n.3092+258_3092+259delinsAT
ENST00000638504.1:n.2997+258_2997+259delinsAT
ENST00000638568.2:c.3092+258_3092+259delinsAT ENSP00000491158.2:n.3092+258_3092+259delinsAT
ENST00000639899.1:n.3908+258_3908+259delinsAT
ENST00000640655.2:c.3092+258_3092+259delinsAT ENSP00000491596.2:n.3092+258_3092+259delinsAT
ENST00000651249.1:c.225+258_225+259delinsAT
ENST00000378823.7:c.3389+258_3389+259delinsAT ENSP00000368100.4:n.3389+258_3389+259delinsAT
ENST00000455677.1:c.24+258_24+259delinsAT
ENST00000533482.5:c.*3015+258_*3015+259delinsAT ENSP00000431225.1:n.*3015+258_*3015+259delinsAT
NM_005732.3:c.3389+258_3389+259delinsAT NP_005723.2:n.3389+258_3389+259delinsAT
NM_005732.4:c.3389+258_3389+259delinsAT MANE Select NP_005723.2:n.3389+258_3389+259delinsAT