Canonical Allele Identifier: CA2580612770

Gene: RAD50 TH2LCRR

Linked Data

• ClinVar Variation Id: 1367541
• ClinVar RCV Id: RCV001947343
• dbSNP Id: rs2149866800

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132642183_132642185del , CM000667.2:g.132642183_132642185del	GRCh38
NC_000005.9:g.131977875_131977877del , CM000667.1:g.131977875_131977877del	GRCh37
NC_000005.8:g.132005774_132005776del	NCBI36
NG_021151.1:g.90260_90262del
NG_021151.2:g.90207_90209del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3758_3760del (RAD50) MANE Select	ENSP00000368100.4:p.Ile1253del
ENST00000638452.2:c.3461_3463del	ENSP00000492349.2:p.Ile1154del
ENST00000638504.1:n.3366_3368del
ENST00000638568.2:c.3461_3463del	ENSP00000491158.2:p.Ile1154del
ENST00000639899.1:n.4277_4279del
ENST00000640655.2:c.3461_3463del	ENSP00000491596.2:p.Ile1154del
ENST00000651249.1:c.594_596del (RAD50)
ENST00000378823.7:c.3758_3760del (RAD50)	ENSP00000368100.4:p.Ile1253del
ENST00000455677.1:c.388-822_388-820del (RAD50)
ENST00000533482.5:c.*3384_*3386del (RAD50)	ENSP00000431225.1:n.*3384_*3386del
NM_005732.3:c.3758_3760del (RAD50)	NP_005723.2:p.Ile1253del
NR_132125.1:n.189+17_189+19del (TH2LCRR)
NR_132126.1:n.175-3916_175-3914del (TH2LCRR)
NM_005732.4:c.3758_3760del (RAD50) MANE Select	NP_005723.2:p.Ile1253del