Canonical Allele Identifier: CA2573139008

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1443797
• ClinVar RCV Id: RCV001981419
• dbSNP Id: rs2149843762

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595002del , CM000667.2:g.132595002del	GRCh38
NC_000005.9:g.131930694del , CM000667.1:g.131930694del	GRCh37
NC_000005.8:g.131958593del	NCBI36
NG_021151.1:g.43079del
NG_021151.2:g.43026del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1927del MANE Select	ENSP00000368100.4:p.Asp643ThrfsTer?
ENST00000638452.2:c.1630del	ENSP00000492349.2:p.Asp544ThrfsTer?
ENST00000638504.1:n.1480-102del
ENST00000638568.2:c.1630del	ENSP00000491158.2:p.Asp544ThrfsTer?
ENST00000639899.1:n.2446del
ENST00000640655.2:c.1630del	ENSP00000491596.2:p.Asp544ThrfsTer?
ENST00000651160.1:c.*16-102del	ENSP00000498829.1:n.*16-102del
ENST00000651658.1:n.2470del
ENST00000651723.1:c.*2010del	ENSP00000498237.1:n.*2010del
ENST00000652016.1:c.*89-102del	ENSP00000498267.1:n.*89-102del
ENST00000652485.1:c.1960del	ENSP00000498973.1:p.Asp654ThrfsTer?
ENST00000378823.7:c.1927del	ENSP00000368100.4:p.Asp643ThrfsTer?
ENST00000423956.5:c.*113del	ENSP00000390971.1:n.*113del
ENST00000453394.5:c.1744del	ENSP00000400049.1:p.Asp582ThrfsTer?
ENST00000533482.5:c.*1553del	ENSP00000431225.1:n.*1553del
NM_005732.3:c.1927del	NP_005723.2:p.Asp643ThrfsTer?
NM_005732.4:c.1927del MANE Select	NP_005723.2:p.Asp643ThrfsTer?