Canonical Allele Identifier: CA2710354654
Gene: RAD50 HGNC NCBI

Linked Data

dbSNP Id: rs2149854047

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132618442_132618454del , CM000667.2:g.132618442_132618454del GRCh38
NC_000005.9:g.131954134_131954146del , CM000667.1:g.131954134_131954146del GRCh37
NC_000005.8:g.131982033_131982045del NCBI36
NG_021151.1:g.66519_66531del
NG_021151.2:g.66466_66478del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.3389+148_3389+160del MANE Select ENSP00000368100.4:n.3389+148_3389+160del
ENST00000638452.2:c.3092+148_3092+160del ENSP00000492349.2:n.3092+148_3092+160del
ENST00000638504.1:n.2997+148_2997+160del
ENST00000638568.2:c.3092+148_3092+160del ENSP00000491158.2:n.3092+148_3092+160del
ENST00000639899.1:n.3908+148_3908+160del
ENST00000640655.2:c.3092+148_3092+160del ENSP00000491596.2:n.3092+148_3092+160del
ENST00000651249.1:c.225+148_225+160del
ENST00000378823.7:c.3389+148_3389+160del ENSP00000368100.4:n.3389+148_3389+160del
ENST00000455677.1:c.24+148_24+160del
ENST00000533482.5:c.*3015+148_*3015+160del ENSP00000431225.1:n.*3015+148_*3015+160del
NM_005732.3:c.3389+148_3389+160del NP_005723.2:n.3389+148_3389+160del
NM_005732.4:c.3389+148_3389+160del MANE Select NP_005723.2:n.3389+148_3389+160del