Canonical Allele Identifier: CA1583234119

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618412_132618414delinsCTT , CM000667.2:g.132618412_132618414delinsCTT	GRCh38
NC_000005.9:g.131954104_131954106delinsCTT , CM000667.1:g.131954104_131954106delinsCTT	GRCh37
NC_000005.8:g.131982003_131982005delinsCTT	NCBI36
NG_021151.1:g.66489_66491delinsCTT
NG_021151.2:g.66436_66438delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3389+118_3389+120delinsCTT MANE Select	ENSP00000368100.4:n.3389+118_3389+120delinsCTT
ENST00000638452.2:c.3092+118_3092+120delinsCTT	ENSP00000492349.2:n.3092+118_3092+120delinsCTT
ENST00000638504.1:n.2997+118_2997+120delinsCTT
ENST00000638568.2:c.3092+118_3092+120delinsCTT	ENSP00000491158.2:n.3092+118_3092+120delinsCTT
ENST00000639899.1:n.3908+118_3908+120delinsCTT
ENST00000640655.2:c.3092+118_3092+120delinsCTT	ENSP00000491596.2:n.3092+118_3092+120delinsCTT
ENST00000651249.1:c.225+118_225+120delinsCTT
ENST00000378823.7:c.3389+118_3389+120delinsCTT	ENSP00000368100.4:n.3389+118_3389+120delinsCTT
ENST00000455677.1:c.24+118_24+120delinsCTT
ENST00000533482.5:c.*3015+118_*3015+120delinsCTT	ENSP00000431225.1:n.*3015+118_*3015+120delinsCTT
NM_005732.3:c.3389+118_3389+120delinsCTT	NP_005723.2:n.3389+118_3389+120delinsCTT
NM_005732.4:c.3389+118_3389+120delinsCTT MANE Select	NP_005723.2:n.3389+118_3389+120delinsCTT