Canonical Allele Identifier: CA658657522

Gene: RAD50

Linked Data

• ClinVar Variation Id: 480405
• ClinVar RCV Id: RCV000565538
• dbSNP Id: rs1281337925
• gnomAD v4: 5-132604813-T-TA
• MyVariant Identifiers: chr5:g.131940507dup (hg19) ; chr5:g.131940505_131940506insA (hg19) ; chr5:g.132604815dup (hg38) ; chr5:g.132604813_132604814insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604815dup , CM000667.2:g.132604815dup	GRCh38
NC_000005.9:g.131940507dup , CM000667.1:g.131940507dup	GRCh37
NC_000005.8:g.131968406dup	NCBI36
NG_021151.1:g.52892dup
NG_021151.2:g.52839dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2534dup MANE Select	ENSP00000368100.4:p.Ile846AspfsTer2
ENST00000638452.2:c.2237dup	ENSP00000492349.2:p.Ile747AspfsTer2
ENST00000638504.1:n.2142dup
ENST00000638568.2:c.2237dup	ENSP00000491158.2:p.Ile747AspfsTer2
ENST00000639899.1:n.3053dup
ENST00000640655.2:c.2237dup	ENSP00000491596.2:p.Ile747AspfsTer2
ENST00000651160.1:c.*678dup	ENSP00000498829.1:n.*678dup
ENST00000651723.1:c.*2617dup	ENSP00000498237.1:n.*2617dup
ENST00000652016.1:c.*751dup	ENSP00000498267.1:n.*751dup
ENST00000652485.1:c.2567dup	ENSP00000498973.1:p.Ile857AspfsTer2
ENST00000378823.7:c.2534dup	ENSP00000368100.4:p.Ile846AspfsTer2
ENST00000423956.5:c.*720dup	ENSP00000390971.1:n.*720dup
ENST00000533482.5:c.*2160dup	ENSP00000431225.1:n.*2160dup
NM_005732.3:c.2534dup	NP_005723.2:p.Ile846AspfsTer2
NM_005732.4:c.2534dup MANE Select	NP_005723.2:p.Ile846AspfsTer2