Canonical Allele Identifier: CA1583234178
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132618500_132618508delinsTCCCAAGTA , CM000667.2:g.132618500_132618508delinsTCCCAAGTA GRCh38
NC_000005.9:g.131954192_131954200delinsTCCCAAGTA , CM000667.1:g.131954192_131954200delinsTCCCAAGTA GRCh37
NC_000005.8:g.131982091_131982099delinsTCCCAAGTA NCBI36
NG_021151.1:g.66577_66585delinsTCCCAAGTA
NG_021151.2:g.66524_66532delinsTCCCAAGTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.3389+206_3389+214delinsTCCCAAGTA MANE Select ENSP00000368100.4:n.3389+206_3389+214delinsTCCCAAGTA
ENST00000638452.2:c.3092+206_3092+214delinsTCCCAAGTA ENSP00000492349.2:n.3092+206_3092+214delinsTCCCAAGTA
ENST00000638504.1:n.2997+206_2997+214delinsTCCCAAGTA
ENST00000638568.2:c.3092+206_3092+214delinsTCCCAAGTA ENSP00000491158.2:n.3092+206_3092+214delinsTCCCAAGTA
ENST00000639899.1:n.3908+206_3908+214delinsTCCCAAGTA
ENST00000640655.2:c.3092+206_3092+214delinsTCCCAAGTA ENSP00000491596.2:n.3092+206_3092+214delinsTCCCAAGTA
ENST00000651249.1:c.225+206_225+214delinsTCCCAAGTA
ENST00000378823.7:c.3389+206_3389+214delinsTCCCAAGTA ENSP00000368100.4:n.3389+206_3389+214delinsTCCCAAGTA
ENST00000455677.1:c.24+206_24+214delinsTCCCAAGTA
ENST00000533482.5:c.*3015+206_*3015+214delinsTCCCAAGTA ENSP00000431225.1:n.*3015+206_*3015+214delinsTCCCAAGTA
NM_005732.3:c.3389+206_3389+214delinsTCCCAAGTA NP_005723.2:n.3389+206_3389+214delinsTCCCAAGTA
NM_005732.4:c.3389+206_3389+214delinsTCCCAAGTA MANE Select NP_005723.2:n.3389+206_3389+214delinsTCCCAAGTA