Canonical Allele Identifier: CA2499217582

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1068560
• ClinVar RCV Id: RCV001380165
• dbSNP Id: rs2149843770

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595009_132595010dup , CM000667.2:g.132595009_132595010dup	GRCh38
NC_000005.9:g.131930701_131930702dup , CM000667.1:g.131930701_131930702dup	GRCh37
NC_000005.8:g.131958600_131958601dup	NCBI36
NG_021151.1:g.43086_43087dup
NG_021151.2:g.43033_43034dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1934_1935dup MANE Select	ENSP00000368100.4:p.Lys646LeufsTer29
ENST00000638452.2:c.1637_1638dup	ENSP00000492349.2:p.Lys547LeufsTer29
ENST00000638504.1:n.1480-95_1480-94dup
ENST00000638568.2:c.1637_1638dup	ENSP00000491158.2:p.Lys547LeufsTer29
ENST00000639899.1:n.2453_2454dup
ENST00000640655.2:c.1637_1638dup	ENSP00000491596.2:p.Lys547LeufsTer29
ENST00000651160.1:c.*16-95_*16-94dup	ENSP00000498829.1:n.*16-95_*16-94dup
ENST00000651658.1:n.2477_2478dup
ENST00000651723.1:c.*2017_*2018dup	ENSP00000498237.1:n.*2017_*2018dup
ENST00000652016.1:c.*89-95_*89-94dup	ENSP00000498267.1:n.*89-95_*89-94dup
ENST00000652485.1:c.1967_1968dup	ENSP00000498973.1:p.Lys657LeufsTer29
ENST00000378823.7:c.1934_1935dup	ENSP00000368100.4:p.Lys646LeufsTer29
ENST00000423956.5:c.*120_*121dup	ENSP00000390971.1:n.*120_*121dup
ENST00000453394.5:c.1751_1752dup	ENSP00000400049.1:p.Lys585LeufsTer29
ENST00000533482.5:c.*1560_*1561dup	ENSP00000431225.1:n.*1560_*1561dup
NM_005732.3:c.1934_1935dup	NP_005723.2:p.Lys646LeufsTer29
NM_005732.4:c.1934_1935dup MANE Select	NP_005723.2:p.Lys646LeufsTer29