Canonical Allele Identifier: CA1583234110

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618400_132618402delinsCAG , CM000667.2:g.132618400_132618402delinsCAG	GRCh38
NC_000005.9:g.131954092_131954094delinsCAG , CM000667.1:g.131954092_131954094delinsCAG	GRCh37
NC_000005.8:g.131981991_131981993delinsCAG	NCBI36
NG_021151.1:g.66477_66479delinsCAG
NG_021151.2:g.66424_66426delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3389+106_3389+108delinsCAG MANE Select	ENSP00000368100.4:n.3389+106_3389+108delinsCAG
ENST00000638452.2:c.3092+106_3092+108delinsCAG	ENSP00000492349.2:n.3092+106_3092+108delinsCAG
ENST00000638504.1:n.2997+106_2997+108delinsCAG
ENST00000638568.2:c.3092+106_3092+108delinsCAG	ENSP00000491158.2:n.3092+106_3092+108delinsCAG
ENST00000639899.1:n.3908+106_3908+108delinsCAG
ENST00000640655.2:c.3092+106_3092+108delinsCAG	ENSP00000491596.2:n.3092+106_3092+108delinsCAG
ENST00000651249.1:c.225+106_225+108delinsCAG
ENST00000378823.7:c.3389+106_3389+108delinsCAG	ENSP00000368100.4:n.3389+106_3389+108delinsCAG
ENST00000455677.1:c.24+106_24+108delinsCAG
ENST00000533482.5:c.*3015+106_*3015+108delinsCAG	ENSP00000431225.1:n.*3015+106_*3015+108delinsCAG
NM_005732.3:c.3389+106_3389+108delinsCAG	NP_005723.2:n.3389+106_3389+108delinsCAG
NM_005732.4:c.3389+106_3389+108delinsCAG MANE Select	NP_005723.2:n.3389+106_3389+108delinsCAG