Canonical Allele Identifier: CA916082766

Gene: RAD50

Linked Data

• ClinVar Variation Id: 841180
• ClinVar RCV Id: RCV001043351
• dbSNP Id: rs1750761217

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594896_132594924del , CM000667.2:g.132594896_132594924del	GRCh38
NC_000005.9:g.131930588_131930616del , CM000667.1:g.131930588_131930616del	GRCh37
NC_000005.8:g.131958487_131958515del	NCBI36
NG_021151.1:g.42973_43001del
NG_021151.2:g.42920_42948del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1821_1849del MANE Select	ENSP00000368100.4:p.Asn607LysfsTer15
ENST00000638452.2:c.1524_1552del	ENSP00000492349.2:p.Asn508LysfsTer15
ENST00000638504.1:n.1480-208_1480-180del
ENST00000638568.2:c.1524_1552del	ENSP00000491158.2:p.Asn508LysfsTer15
ENST00000639899.1:n.2340_2368del
ENST00000640655.2:c.1524_1552del	ENSP00000491596.2:p.Asn508LysfsTer15
ENST00000651160.1:c.*16-208_*16-180del	ENSP00000498829.1:n.*16-208_*16-180del
ENST00000651658.1:n.2364_2392del
ENST00000651723.1:c.*1904_*1932del	ENSP00000498237.1:n.*1904_*1932del
ENST00000652016.1:c.*89-208_*89-180del	ENSP00000498267.1:n.*89-208_*89-180del
ENST00000652485.1:c.1854_1882del	ENSP00000498973.1:p.Asn618LysfsTer15
ENST00000378823.7:c.1821_1849del	ENSP00000368100.4:p.Asn607LysfsTer15
ENST00000423956.5:c.*7_*35del	ENSP00000390971.1:n.*7_*35del
ENST00000453394.5:c.1638_1666del	ENSP00000400049.1:p.Asn546LysfsTer15
ENST00000533482.5:c.*1447_*1475del	ENSP00000431225.1:n.*1447_*1475del
NM_005732.3:c.1821_1849del	NP_005723.2:p.Asn607LysfsTer15
NM_005732.4:c.1821_1849del MANE Select	NP_005723.2:p.Asn607LysfsTer15