Canonical Allele Identifier: CA1583252489
Gene: RAD50 HGNC NCBI
TH2LCRR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132637512_132637517delinsCTTTTT , CM000667.2:g.132637512_132637517delinsCTTTTT GRCh38
NC_000005.9:g.131973204_131973209delinsCTTTTT , CM000667.1:g.131973204_131973209delinsCTTTTT GRCh37
NC_000005.8:g.132001103_132001108delinsCTTTTT NCBI36
NG_021151.1:g.85589_85594delinsCTTTTT
NG_021151.2:g.85536_85541delinsCTTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.3475+312_3475+317delinsCTTTTT (RAD50) MANE Select ENSP00000368100.4:n.3475+312_3475+317delinsCTTTTT
ENST00000638452.2:c.3178+312_3178+317delinsCTTTTT ENSP00000492349.2:n.3178+312_3178+317delinsCTTTTT
ENST00000638504.1:n.3083+312_3083+317delinsCTTTTT
ENST00000638568.2:c.3178+312_3178+317delinsCTTTTT ENSP00000491158.2:n.3178+312_3178+317delinsCTTTTT
ENST00000639899.1:n.3994+312_3994+317delinsCTTTTT
ENST00000640655.2:c.3178+312_3178+317delinsCTTTTT ENSP00000491596.2:n.3178+312_3178+317delinsCTTTTT
ENST00000651249.1:c.311+312_311+317delinsCTTTTT (RAD50)
ENST00000378823.7:c.3475+312_3475+317delinsCTTTTT (RAD50) ENSP00000368100.4:n.3475+312_3475+317delinsCTTTTT
ENST00000455677.1:c.110+312_110+317delinsCTTTTT (RAD50)
ENST00000533482.5:c.*3101+312_*3101+317delinsCTTTTT (RAD50) ENSP00000431225.1:n.*3101+312_*3101+317delinsCTTTTT
NM_005732.3:c.3475+312_3475+317delinsCTTTTT (RAD50) NP_005723.2:n.3475+312_3475+317delinsCTTTTT
NR_132124.1:n.153+641_153+646delinsAAAAAG (TH2LCRR)
NM_005732.4:c.3475+312_3475+317delinsCTTTTT (RAD50) MANE Select NP_005723.2:n.3475+312_3475+317delinsCTTTTT