Canonical Allele Identifier: CA1583252496

Gene: RAD50 TH2LCRR

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132637521_132637523delinsTTC , CM000667.2:g.132637521_132637523delinsTTC	GRCh38
NC_000005.9:g.131973213_131973215delinsTTC , CM000667.1:g.131973213_131973215delinsTTC	GRCh37
NC_000005.8:g.132001112_132001114delinsTTC	NCBI36
NG_021151.1:g.85598_85600delinsTTC
NG_021151.2:g.85545_85547delinsTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3475+321_3475+323delinsTTC (RAD50) MANE Select	ENSP00000368100.4:n.3475+321_3475+323delinsTTC
ENST00000638452.2:c.3178+321_3178+323delinsTTC	ENSP00000492349.2:n.3178+321_3178+323delinsTTC
ENST00000638504.1:n.3083+321_3083+323delinsTTC
ENST00000638568.2:c.3178+321_3178+323delinsTTC	ENSP00000491158.2:n.3178+321_3178+323delinsTTC
ENST00000639899.1:n.3994+321_3994+323delinsTTC
ENST00000640655.2:c.3178+321_3178+323delinsTTC	ENSP00000491596.2:n.3178+321_3178+323delinsTTC
ENST00000651249.1:c.311+321_311+323delinsTTC (RAD50)
ENST00000378823.7:c.3475+321_3475+323delinsTTC (RAD50)	ENSP00000368100.4:n.3475+321_3475+323delinsTTC
ENST00000455677.1:c.110+321_110+323delinsTTC (RAD50)
ENST00000533482.5:c.*3101+321_*3101+323delinsTTC (RAD50)	ENSP00000431225.1:n.*3101+321_*3101+323delinsTTC
NM_005732.3:c.3475+321_3475+323delinsTTC (RAD50)	NP_005723.2:n.3475+321_3475+323delinsTTC
NR_132124.1:n.153+635_153+637delinsGAA (TH2LCRR)
NM_005732.4:c.3475+321_3475+323delinsTTC (RAD50) MANE Select	NP_005723.2:n.3475+321_3475+323delinsTTC