Canonical Allele Identifier: CA563057470

Gene: RAD50

Linked Data

• ClinVar Variation Id: 962481
• ClinVar RCV Id: RCV001236341
• dbSNP Id: rs1178573189
• gnomAD v2: 5-131925335-GA-G
• gnomAD v4: 5-132589643-GA-G
• MyVariant Identifiers: chr5:g.131925336del (hg19) ; chr5:g.132589644del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132589648del , CM000667.2:g.132589648del	GRCh38
NC_000005.9:g.131925340del , CM000667.1:g.131925340del	GRCh37
NC_000005.8:g.131953239del	NCBI36
NG_021151.1:g.37725del
NG_021151.2:g.37672del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.1263del MANE Select	ENSP00000368100.4:p.Glu422ArgfsTer3
ENST00000638452.2:c.966del	ENSP00000492349.2:p.Glu323ArgfsTer3
ENST00000638504.1:n.949del
ENST00000638568.2:c.966del	ENSP00000491158.2:p.Glu323ArgfsTer3
ENST00000639899.1:n.1782del
ENST00000640655.2:c.966del	ENSP00000491596.2:p.Glu323ArgfsTer3
ENST00000651160.1:c.1263del	ENSP00000498829.1:p.Glu422ArgfsTer3
ENST00000651541.1:c.966del	ENSP00000498795.1:p.Glu323ArgfsTer3
ENST00000651658.1:n.1690del
ENST00000651723.1:c.*1346del	ENSP00000498237.1:n.*1346del
ENST00000652016.1:c.1263del	ENSP00000498267.1:p.Glu422ArgfsTer3
ENST00000652485.1:c.1263del	ENSP00000498973.1:p.Glu422ArgfsTer3
ENST00000378823.7:c.1263del	ENSP00000368100.4:p.Glu422ArgfsTer3
ENST00000423956.5:c.1263del	ENSP00000390971.1:p.Glu422ArgfsTer3
ENST00000453394.5:c.1263del	ENSP00000400049.1:p.Glu422ArgfsTer3
ENST00000533482.5:c.*889del	ENSP00000431225.1:n.*889del
NM_005732.3:c.1263del	NP_005723.2:p.Glu422ArgfsTer3
NM_005732.4:c.1263del MANE Select	NP_005723.2:p.Glu422ArgfsTer3