Canonical Allele Identifier: CA658796640

Gene: RAD50

Linked Data

• ClinVar Variation Id: 527348
• ClinVar RCV Id: RCV000632207
• dbSNP Id: rs1554098683
• gnomAD v4: 5-132595656-C-CA
• MyVariant Identifiers: chr5:g.131931349dup (hg19) ; chr5:g.132595657dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595657dup , CM000667.2:g.132595657dup	GRCh38
NC_000005.9:g.131931349dup , CM000667.1:g.131931349dup	GRCh37
NC_000005.8:g.131959248dup	NCBI36
NG_021151.1:g.43734dup
NG_021151.2:g.43681dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2054dup MANE Select	ENSP00000368100.4:p.Arg686GlufsTer8
ENST00000638452.2:c.1757dup	ENSP00000492349.2:p.Arg587GlufsTer8
ENST00000638504.1:n.1662dup
ENST00000638568.2:c.1757dup	ENSP00000491158.2:p.Arg587GlufsTer8
ENST00000639899.1:n.2573dup
ENST00000640655.2:c.1757dup	ENSP00000491596.2:p.Arg587GlufsTer8
ENST00000651160.1:c.*198dup	ENSP00000498829.1:n.*198dup
ENST00000651658.1:n.2597dup
ENST00000651723.1:c.*2137dup	ENSP00000498237.1:n.*2137dup
ENST00000652016.1:c.*271dup	ENSP00000498267.1:n.*271dup
ENST00000652485.1:c.2087dup	ENSP00000498973.1:p.Arg697GlufsTer8
ENST00000378823.7:c.2054dup	ENSP00000368100.4:p.Arg686GlufsTer8
ENST00000423956.5:c.*240dup	ENSP00000390971.1:n.*240dup
ENST00000453394.5:c.1871dup	ENSP00000400049.1:p.Arg625GlufsTer8
ENST00000496204.1:n.137dup
ENST00000533482.5:c.*1680dup	ENSP00000431225.1:n.*1680dup
NM_005732.3:c.2054dup	NP_005723.2:p.Arg686GlufsTer8
NM_005732.4:c.2054dup MANE Select	NP_005723.2:p.Arg686GlufsTer8