Canonical Allele Identifier: CA915942563
Gene: RAD50 HGNC NCBI
TH2LCRR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132642205dup , CM000667.2:g.132642205dup GRCh38
NC_000005.9:g.131977897dup , CM000667.1:g.131977897dup GRCh37
NC_000005.8:g.132005796dup NCBI36
NG_021151.1:g.90282dup
NG_021151.2:g.90229dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.3780dup (RAD50) MANE Select ENSP00000368100.4:p.Asn1261Ter
ENST00000638452.2:c.3483dup ENSP00000492349.2:p.Asn1162Ter
ENST00000638504.1:n.3388dup
ENST00000638568.2:c.3483dup ENSP00000491158.2:p.Asn1162Ter
ENST00000639899.1:n.4299dup
ENST00000640655.2:c.3483dup ENSP00000491596.2:p.Asn1162Ter
ENST00000651249.1:c.616dup (RAD50)
ENST00000378823.7:c.3780dup (RAD50) ENSP00000368100.4:p.Asn1261Ter
ENST00000455677.1:c.388-800dup (RAD50)
ENST00000533482.5:c.*3406dup (RAD50) ENSP00000431225.1:n.*3406dup
NM_005732.3:c.3780dup (RAD50) NP_005723.2:p.Asn1261Ter
NR_132125.1:n.182dup (TH2LCRR)
NR_132126.1:n.175-3940dup (TH2LCRR)
NM_005732.4:c.3780dup (RAD50) MANE Select NP_005723.2:p.Asn1261Ter