Canonical Allele Identifier: CA1583251516
Gene: RAD50 HGNC NCBI
TH2LCRR HGNC NCBI

Linked Data

dbSNP Id: rs1751548521

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132635122_132635127del , CM000667.2:g.132635122_132635127del GRCh38
NC_000005.9:g.131970814_131970819del , CM000667.1:g.131970814_131970819del GRCh37
NC_000005.8:g.131998713_131998718del NCBI36
NG_021151.1:g.83199_83204del
NG_021151.2:g.83146_83151del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.3390-1993_3390-1988del (RAD50) MANE Select ENSP00000368100.4:n.3390-1993_3390-1988del
ENST00000638452.2:c.3093-1993_3093-1988del ENSP00000492349.2:n.3093-1993_3093-1988del
ENST00000638504.1:n.2998-1993_2998-1988del
ENST00000638568.2:c.3093-1993_3093-1988del ENSP00000491158.2:n.3093-1993_3093-1988del
ENST00000639899.1:n.3909-1993_3909-1988del
ENST00000640655.2:c.3093-1993_3093-1988del ENSP00000491596.2:n.3093-1993_3093-1988del
ENST00000651249.1:c.226-1993_226-1988del (RAD50)
ENST00000378823.7:c.3390-1993_3390-1988del (RAD50) ENSP00000368100.4:n.3390-1993_3390-1988del
ENST00000455677.1:c.25-1993_25-1988del (RAD50)
ENST00000533482.5:c.*3016-1993_*3016-1988del (RAD50) ENSP00000431225.1:n.*3016-1993_*3016-1988del
NM_005732.3:c.3390-1993_3390-1988del (RAD50) NP_005723.2:n.3390-1993_3390-1988del
NR_132124.1:n.153+3033_153+3038del (TH2LCRR)
NM_005732.4:c.3390-1993_3390-1988del (RAD50) MANE Select NP_005723.2:n.3390-1993_3390-1988del