Canonical Allele Identifier: CA197391

Gene: RAD50

Linked Data

• ClinVar Variation Id: 187339
• ClinVar RCV Id: RCV000167058
• dbSNP Id: rs786203655
• MyVariant Identifiers: chr5:g.131924533_131924536del (hg19) ; chr5:g.132588841_132588844del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132588841_132588844del , CM000667.2:g.132588841_132588844del	GRCh38
NC_000005.9:g.131924533_131924536del , CM000667.1:g.131924533_131924536del	GRCh37
NC_000005.8:g.131952432_131952435del	NCBI36
NG_021151.1:g.36918_36921del
NG_021151.2:g.36865_36868del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1206_1209del MANE Select	ENSP00000368100.4:p.Glu402AspfsTer12
ENST00000638452.2:c.909_912del	ENSP00000492349.2:p.Glu303AspfsTer12
ENST00000638504.1:n.892_895del
ENST00000638568.2:c.909_912del	ENSP00000491158.2:p.Glu303AspfsTer12
ENST00000639899.1:n.1725_1728del
ENST00000640655.2:c.909_912del	ENSP00000491596.2:p.Glu303AspfsTer12
ENST00000651160.1:c.1206_1209del	ENSP00000498829.1:p.Glu402AspfsTer12
ENST00000651541.1:c.909_912del	ENSP00000498795.1:p.Glu303AspfsTer12
ENST00000651658.1:n.1633_1636del
ENST00000651723.1:c.*1289_*1292del	ENSP00000498237.1:n.*1289_*1292del
ENST00000652016.1:c.1206_1209del	ENSP00000498267.1:p.Glu402AspfsTer12
ENST00000652485.1:c.1206_1209del	ENSP00000498973.1:p.Glu402AspfsTer12
ENST00000378823.7:c.1206_1209del	ENSP00000368100.4:p.Glu402AspfsTer12
ENST00000423956.5:c.1206_1209del	ENSP00000390971.1:p.Glu402AspfsTer12
ENST00000453394.5:c.1206_1209del	ENSP00000400049.1:p.Glu402AspfsTer12
ENST00000533482.5:c.*832_*835del	ENSP00000431225.1:n.*832_*835del
NM_005732.3:c.1206_1209del	NP_005723.2:p.Glu402AspfsTer12
NM_005732.4:c.1206_1209del MANE Select	NP_005723.2:p.Glu402AspfsTer12