Canonical Allele Identifier: CA563057503

Gene: RAD50

Linked Data

• ClinVar Variation Id: 2919936
• ClinVar RCV Id: RCV003747677
• dbSNP Id: rs1225563792
• gnomAD v2: 5-131924537-CAAG-C
• gnomAD v4: 5-132588845-CAAG-C
• MyVariant Identifiers: chr5:g.131924538_131924540del (hg19) ; chr5:g.132588846_132588848del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132588849_132588851del , CM000667.2:g.132588849_132588851del	GRCh38
NC_000005.9:g.131924541_131924543del , CM000667.1:g.131924541_131924543del	GRCh37
NC_000005.8:g.131952440_131952442del	NCBI36
NG_021151.1:g.36926_36928del
NG_021151.2:g.36873_36875del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1214_1216del MANE Select	ENSP00000368100.4:p.Glu405del
ENST00000638452.2:c.917_919del	ENSP00000492349.2:p.Glu306del
ENST00000638504.1:n.900_902del
ENST00000638568.2:c.917_919del	ENSP00000491158.2:p.Glu306del
ENST00000639899.1:n.1733_1735del
ENST00000640655.2:c.917_919del	ENSP00000491596.2:p.Glu306del
ENST00000651160.1:c.1214_1216del	ENSP00000498829.1:p.Glu405del
ENST00000651541.1:c.917_919del	ENSP00000498795.1:p.Glu306del
ENST00000651658.1:n.1641_1643del
ENST00000651723.1:c.*1297_*1299del	ENSP00000498237.1:n.*1297_*1299del
ENST00000652016.1:c.1214_1216del	ENSP00000498267.1:p.Glu405del
ENST00000652485.1:c.1214_1216del	ENSP00000498973.1:p.Glu405del
ENST00000378823.7:c.1214_1216del	ENSP00000368100.4:p.Glu405del
ENST00000423956.5:c.1214_1216del	ENSP00000390971.1:p.Glu405del
ENST00000453394.5:c.1214_1216del	ENSP00000400049.1:p.Glu405del
ENST00000533482.5:c.*840_*842del	ENSP00000431225.1:n.*840_*842del
NM_005732.3:c.1214_1216del	NP_005723.2:p.Glu405del
NM_005732.4:c.1214_1216del MANE Select	NP_005723.2:p.Glu405del