Canonical Allele Identifier: CA804023949
Gene: RAD50 HGNC NCBI
TH2LCRR HGNC NCBI

Linked Data

dbSNP Id: rs1464415446

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132633823_132633825del , CM000667.2:g.132633823_132633825del GRCh38
NC_000005.9:g.131969515_131969517del , CM000667.1:g.131969515_131969517del GRCh37
NC_000005.8:g.131997414_131997416del NCBI36
NG_021151.1:g.81900_81902del
NG_021151.2:g.81847_81849del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.3390-3292_3390-3290del (RAD50) MANE Select ENSP00000368100.4:n.3390-3292_3390-3290del
ENST00000638452.2:c.3093-3292_3093-3290del ENSP00000492349.2:n.3093-3292_3093-3290del
ENST00000638504.1:n.2998-3292_2998-3290del
ENST00000638568.2:c.3093-3292_3093-3290del ENSP00000491158.2:n.3093-3292_3093-3290del
ENST00000639899.1:n.3909-3292_3909-3290del
ENST00000640655.2:c.3093-3292_3093-3290del ENSP00000491596.2:n.3093-3292_3093-3290del
ENST00000651249.1:c.226-3292_226-3290del (RAD50)
ENST00000378823.7:c.3390-3292_3390-3290del (RAD50) ENSP00000368100.4:n.3390-3292_3390-3290del
ENST00000455677.1:c.25-3292_25-3290del (RAD50)
ENST00000533482.5:c.*3016-3292_*3016-3290del (RAD50) ENSP00000431225.1:n.*3016-3292_*3016-3290del
NM_005732.3:c.3390-3292_3390-3290del (RAD50) NP_005723.2:n.3390-3292_3390-3290del
NR_132124.1:n.154-2932_154-2930del (TH2LCRR)
NM_005732.4:c.3390-3292_3390-3290del (RAD50) MANE Select NP_005723.2:n.3390-3292_3390-3290del