Canonical Allele Identifier: CA10582392

Gene: RAD50 TH2LCRR

Linked Data

• ClinVar Variation Id: 240238
• ClinVar RCV Id: RCV000226547 ; RCV000576613
• dbSNP Id: rs878854799
• gnomAD v4: 5-132638093-TAGAAATA-T
• MyVariant Identifiers: chr5:g.131973786_131973792del (hg19) ; chr5:g.132638094_132638100del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132638094_132638100del , CM000667.2:g.132638094_132638100del	GRCh38
NC_000005.9:g.131973786_131973792del , CM000667.1:g.131973786_131973792del	GRCh37
NC_000005.8:g.132001685_132001691del	NCBI36
NG_021151.1:g.86171_86177del
NG_021151.2:g.86118_86124del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3489_3495del (RAD50) MANE Select	ENSP00000368100.4:p.Glu1164GlyfsTer22
ENST00000638452.2:c.3192_3198del	ENSP00000492349.2:p.Glu1065GlyfsTer22
ENST00000638504.1:n.3097_3103del
ENST00000638568.2:c.3192_3198del	ENSP00000491158.2:p.Glu1065GlyfsTer22
ENST00000639899.1:n.4008_4014del
ENST00000640655.2:c.3192_3198del	ENSP00000491596.2:p.Glu1065GlyfsTer22
ENST00000651249.1:c.325_331del (RAD50)
ENST00000378823.7:c.3489_3495del (RAD50)	ENSP00000368100.4:p.Glu1164GlyfsTer22
ENST00000455677.1:c.124_130del (RAD50)
ENST00000533482.5:c.*3115_*3121del (RAD50)	ENSP00000431225.1:n.*3115_*3121del
NM_005732.3:c.3489_3495del (RAD50)	NP_005723.2:p.Glu1164GlyfsTer22
NR_132124.1:n.153+58_153+64del (TH2LCRR)
NR_132125.1:n.355_361del (TH2LCRR)
NR_132126.1:n.340_346del (TH2LCRR)
NM_005732.4:c.3489_3495del (RAD50) MANE Select	NP_005723.2:p.Glu1164GlyfsTer22