Canonical Allele Identifier: CA3405123

Gene: RAD50

Linked Data

• ClinVar Variation Id: 575273
• ClinVar RCV Id: RCV000697445
• dbSNP Id: rs770082735
• ExAC: 5:131924511 A / AT
• gnomAD v2: 5-131924511-A-AT
• gnomAD v4: 5-132588819-A-AT
• MyVariant Identifiers: chr5:g.131924515dup (hg19) ; chr5:g.131924511_131924512insT (hg19) ; chr5:g.132588823dup (hg38) ; chr5:g.132588819_132588820insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132588823dup , CM000667.2:g.132588823dup	GRCh38
NC_000005.9:g.131924515dup , CM000667.1:g.131924515dup	GRCh37
NC_000005.8:g.131952414dup	NCBI36
NG_021151.1:g.36900dup
NG_021151.2:g.36847dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1188dup MANE Select	ENSP00000368100.4:p.His397SerfsTer21
ENST00000638452.2:c.891dup	ENSP00000492349.2:p.His298SerfsTer21
ENST00000638504.1:n.874dup
ENST00000638568.2:c.891dup	ENSP00000491158.2:p.His298SerfsTer21
ENST00000639899.1:n.1707dup
ENST00000640655.2:c.891dup	ENSP00000491596.2:p.His298SerfsTer21
ENST00000651160.1:c.1188dup	ENSP00000498829.1:p.His397SerfsTer21
ENST00000651541.1:c.891dup	ENSP00000498795.1:p.His298SerfsTer21
ENST00000651658.1:n.1615dup
ENST00000651723.1:c.*1271dup	ENSP00000498237.1:n.*1271dup
ENST00000652016.1:c.1188dup	ENSP00000498267.1:p.His397SerfsTer21
ENST00000652485.1:c.1188dup	ENSP00000498973.1:p.His397SerfsTer21
ENST00000378823.7:c.1188dup	ENSP00000368100.4:p.His397SerfsTer21
ENST00000423956.5:c.1188dup	ENSP00000390971.1:p.His397SerfsTer21
ENST00000453394.5:c.1188dup	ENSP00000400049.1:p.His397SerfsTer21
ENST00000533482.5:c.*814dup	ENSP00000431225.1:n.*814dup
NM_005732.3:c.1188dup	NP_005723.2:p.His397SerfsTer21
NM_005732.4:c.1188dup MANE Select	NP_005723.2:p.His397SerfsTer21