Canonical Allele Identifier: CA915943552

Gene: RAD50

Linked Data

• ClinVar Variation Id: 743614
• ClinVar RCV Id: RCV000919983
• dbSNP Id: rs1580994751
• gnomAD v4: 5-132591868-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132591869dup , CM000667.2:g.132591869dup	GRCh38
NC_000005.9:g.131927561dup , CM000667.1:g.131927561dup	GRCh37
NC_000005.8:g.131955460dup	NCBI36
NG_021151.1:g.39946dup
NG_021151.2:g.39893dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.1636-8dup MANE Select	ENSP00000368100.4:n.1636-8dup
ENST00000638452.2:c.1339-8dup	ENSP00000492349.2:n.1339-8dup
ENST00000638504.1:n.1322-8dup
ENST00000638568.2:c.1339-8dup	ENSP00000491158.2:n.1339-8dup
ENST00000639899.1:n.2155-8dup
ENST00000640655.2:c.1339-8dup	ENSP00000491596.2:n.1339-8dup
ENST00000651160.1:c.1636-8dup	ENSP00000498829.1:n.1636-8dup
ENST00000651541.1:c.1339-8dup	ENSP00000498795.1:n.1339-8dup
ENST00000651658.1:n.2063-8dup
ENST00000651723.1:c.*1719-8dup	ENSP00000498237.1:n.*1719-8dup
ENST00000652016.1:c.1636-8dup	ENSP00000498267.1:n.1636-8dup
ENST00000652485.1:c.1669-8dup	ENSP00000498973.1:n.1669-8dup
ENST00000378823.7:c.1636-8dup	ENSP00000368100.4:n.1636-8dup
ENST00000423956.5:c.1635+463dup	ENSP00000390971.1:n.1635+463dup
ENST00000434288.1:c.131-8dup
ENST00000453394.5:c.1453-8dup	ENSP00000400049.1:n.1453-8dup
ENST00000533482.5:c.*1262-8dup	ENSP00000431225.1:n.*1262-8dup
NM_005732.3:c.1636-8dup	NP_005723.2:n.1636-8dup
NM_005732.4:c.1636-8dup MANE Select	NP_005723.2:n.1636-8dup