Canonical Allele Identifier: CA1583252454
Gene: RAD50 HGNC NCBI
TH2LCRR HGNC NCBI

Linked Data

dbSNP Id: rs1751608354

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132637424_132637426del , CM000667.2:g.132637424_132637426del GRCh38
NC_000005.9:g.131973116_131973118del , CM000667.1:g.131973116_131973118del GRCh37
NC_000005.8:g.132001015_132001017del NCBI36
NG_021151.1:g.85501_85503del
NG_021151.2:g.85448_85450del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.3475+224_3475+226del (RAD50) MANE Select ENSP00000368100.4:n.3475+224_3475+226del
ENST00000638452.2:c.3178+224_3178+226del ENSP00000492349.2:n.3178+224_3178+226del
ENST00000638504.1:n.3083+224_3083+226del
ENST00000638568.2:c.3178+224_3178+226del ENSP00000491158.2:n.3178+224_3178+226del
ENST00000639899.1:n.3994+224_3994+226del
ENST00000640655.2:c.3178+224_3178+226del ENSP00000491596.2:n.3178+224_3178+226del
ENST00000651249.1:c.311+224_311+226del (RAD50)
ENST00000378823.7:c.3475+224_3475+226del (RAD50) ENSP00000368100.4:n.3475+224_3475+226del
ENST00000455677.1:c.110+224_110+226del (RAD50)
ENST00000533482.5:c.*3101+224_*3101+226del (RAD50) ENSP00000431225.1:n.*3101+224_*3101+226del
NM_005732.3:c.3475+224_3475+226del (RAD50) NP_005723.2:n.3475+224_3475+226del
NR_132124.1:n.153+734_153+736del (TH2LCRR)
NM_005732.4:c.3475+224_3475+226del (RAD50) MANE Select NP_005723.2:n.3475+224_3475+226del