Canonical Allele Identifier: CA3405289

Gene: RAD50

Linked Data

• dbSNP Id: rs749577429
• ExAC: 5:131930712 A / ATATGGATTTTCAT
• MyVariant Identifiers: chr5:g.131930712_131930713insTATGGATTTTCAT (hg19) ; chr5:g.132595020_132595021insTATGGATTTTCAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595021_132595022insATGGATTTTCATT , CM000667.2:g.132595021_132595022insATGGATTTTCATT	GRCh38
NC_000005.9:g.131930713_131930714insATGGATTTTCATT , CM000667.1:g.131930713_131930714insATGGATTTTCATT	GRCh37
NC_000005.8:g.131958612_131958613insATGGATTTTCATT	NCBI36
NG_021151.1:g.43098_43099insATGGATTTTCATT
NG_021151.2:g.43045_43046insATGGATTTTCATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1946_1947insATGGATTTTCATT MANE Select	ENSP00000368100.4:p.Glu650TrpfsTer5
ENST00000638452.2:c.1649_1650insATGGATTTTCATT	ENSP00000492349.2:p.Glu551TrpfsTer5
ENST00000638504.1:n.1480-83_1480-82insATGGATTTTCATT
ENST00000638568.2:c.1649_1650insATGGATTTTCATT	ENSP00000491158.2:p.Glu551TrpfsTer5
ENST00000639899.1:n.2465_2466insATGGATTTTCATT
ENST00000640655.2:c.1649_1650insATGGATTTTCATT	ENSP00000491596.2:p.Glu551TrpfsTer5
ENST00000651160.1:c.*16-83_*16-82insATGGATTTTCATT	ENSP00000498829.1:n.*16-83_*16-82insATGGATTTTCATT
ENST00000651658.1:n.2489_2490insATGGATTTTCATT
ENST00000651723.1:c.*2029_*2030insATGGATTTTCATT	ENSP00000498237.1:n.*2029_*2030insATGGATTTTCATT
ENST00000652016.1:c.*89-83_*89-82insATGGATTTTCATT	ENSP00000498267.1:n.*89-83_*89-82insATGGATTTTCATT
ENST00000652485.1:c.1979_1980insATGGATTTTCATT	ENSP00000498973.1:p.Glu661TrpfsTer5
ENST00000378823.7:c.1946_1947insATGGATTTTCATT	ENSP00000368100.4:p.Glu650TrpfsTer5
ENST00000423956.5:c.*132_*133insATGGATTTTCATT	ENSP00000390971.1:n.*132_*133insATGGATTTTCATT
ENST00000453394.5:c.1763_1764insATGGATTTTCATT	ENSP00000400049.1:p.Glu589TrpfsTer5
ENST00000533482.5:c.*1572_*1573insATGGATTTTCATT	ENSP00000431225.1:n.*1572_*1573insATGGATTTTCATT
NM_005732.3:c.1946_1947insATGGATTTTCATT	NP_005723.2:p.Glu650TrpfsTer5
NM_005732.4:c.1946_1947insATGGATTTTCATT MANE Select	NP_005723.2:p.Glu650TrpfsTer5