Canonical Allele Identifier: CA2580072695

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1796662
• ClinVar RCV Id: RCV002435193

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609125_132609128dup , CM000667.2:g.132609125_132609128dup	GRCh38
NC_000005.9:g.131944817_131944820dup , CM000667.1:g.131944817_131944820dup	GRCh37
NC_000005.8:g.131972716_131972719dup	NCBI36
NG_021151.1:g.57202_57205dup
NG_021151.2:g.57149_57152dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2838_2841dup MANE Select	ENSP00000368100.4:p.Lys948TyrfsTer2
ENST00000638452.2:c.2541_2544dup	ENSP00000492349.2:p.Lys849TyrfsTer2
ENST00000638504.1:n.2446_2449dup
ENST00000638568.2:c.2541_2544dup	ENSP00000491158.2:p.Lys849TyrfsTer2
ENST00000639899.1:n.3357_3360dup
ENST00000640655.2:c.2541_2544dup	ENSP00000491596.2:p.Lys849TyrfsTer2
ENST00000651160.1:c.*982_*985dup	ENSP00000498829.1:n.*982_*985dup
ENST00000651723.1:c.*2921_*2924dup	ENSP00000498237.1:n.*2921_*2924dup
ENST00000378823.7:c.2838_2841dup	ENSP00000368100.4:p.Lys948TyrfsTer2
ENST00000423956.5:c.*1024_*1027dup	ENSP00000390971.1:n.*1024_*1027dup
ENST00000533482.5:c.*2464_*2467dup	ENSP00000431225.1:n.*2464_*2467dup
NM_005732.3:c.2838_2841dup	NP_005723.2:p.Lys948TyrfsTer2
NM_005732.4:c.2838_2841dup MANE Select	NP_005723.2:p.Lys948TyrfsTer2