Canonical Allele Identifier: CA2499217572

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1069944
• ClinVar RCV Id: RCV001381942
• dbSNP Id: rs2149841198

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132588870del , CM000667.2:g.132588870del	GRCh38
NC_000005.9:g.131924562del , CM000667.1:g.131924562del	GRCh37
NC_000005.8:g.131952461del	NCBI36
NG_021151.1:g.36947del
NG_021151.2:g.36894del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1235del MANE Select	ENSP00000368100.4:p.Asn412ThrfsTer3
ENST00000638452.2:c.938del	ENSP00000492349.2:p.Asn313ThrfsTer3
ENST00000638504.1:n.921del
ENST00000638568.2:c.938del	ENSP00000491158.2:p.Asn313ThrfsTer3
ENST00000639899.1:n.1754del
ENST00000640655.2:c.938del	ENSP00000491596.2:p.Asn313ThrfsTer3
ENST00000651160.1:c.1235del	ENSP00000498829.1:p.Asn412ThrfsTer3
ENST00000651541.1:c.938del	ENSP00000498795.1:p.Asn313ThrfsTer3
ENST00000651658.1:n.1662del
ENST00000651723.1:c.*1318del	ENSP00000498237.1:n.*1318del
ENST00000652016.1:c.1235del	ENSP00000498267.1:p.Asn412ThrfsTer3
ENST00000652485.1:c.1235del	ENSP00000498973.1:p.Asn412ThrfsTer3
ENST00000378823.7:c.1235del	ENSP00000368100.4:p.Asn412ThrfsTer3
ENST00000423956.5:c.1235del	ENSP00000390971.1:p.Asn412ThrfsTer3
ENST00000453394.5:c.1235del	ENSP00000400049.1:p.Asn412ThrfsTer3
ENST00000533482.5:c.*861del	ENSP00000431225.1:n.*861del
NM_005732.3:c.1235del	NP_005723.2:p.Asn412ThrfsTer3
NM_005732.4:c.1235del MANE Select	NP_005723.2:p.Asn412ThrfsTer3