Canonical Allele Identifier: CA1583252490
Gene: RAD50 HGNC NCBI
TH2LCRR HGNC NCBI

Linked Data

dbSNP Id: rs11420290

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132637521_132637522del , CM000667.2:g.132637521_132637522del GRCh38
NC_000005.9:g.131973213_131973214del , CM000667.1:g.131973213_131973214del GRCh37
NC_000005.8:g.132001112_132001113del NCBI36
NG_021151.1:g.85598_85599del
NG_021151.2:g.85545_85546del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.3475+321_3475+322del (RAD50) MANE Select ENSP00000368100.4:n.3475+321_3475+322del
ENST00000638452.2:c.3178+321_3178+322del ENSP00000492349.2:n.3178+321_3178+322del
ENST00000638504.1:n.3083+321_3083+322del
ENST00000638568.2:c.3178+321_3178+322del ENSP00000491158.2:n.3178+321_3178+322del
ENST00000639899.1:n.3994+321_3994+322del
ENST00000640655.2:c.3178+321_3178+322del ENSP00000491596.2:n.3178+321_3178+322del
ENST00000651249.1:c.311+321_311+322del (RAD50)
ENST00000378823.7:c.3475+321_3475+322del (RAD50) ENSP00000368100.4:n.3475+321_3475+322del
ENST00000455677.1:c.110+321_110+322del (RAD50)
ENST00000533482.5:c.*3101+321_*3101+322del (RAD50) ENSP00000431225.1:n.*3101+321_*3101+322del
NM_005732.3:c.3475+321_3475+322del (RAD50) NP_005723.2:n.3475+321_3475+322del
NR_132124.1:n.153+644_153+645del (TH2LCRR)
NM_005732.4:c.3475+321_3475+322del (RAD50) MANE Select NP_005723.2:n.3475+321_3475+322del