Canonical Allele Identifier: CA1583241859

Gene: RAD50

Linked Data

• dbSNP Id: rs1750764592

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595000dup , CM000667.2:g.132595000dup	GRCh38
NC_000005.9:g.131930692dup , CM000667.1:g.131930692dup	GRCh37
NC_000005.8:g.131958591dup	NCBI36
NG_021151.1:g.43077dup
NG_021151.2:g.43024dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1925dup MANE Select	ENSP00000368100.4:p.Leu642PhefsTer5
ENST00000638452.2:c.1628dup	ENSP00000492349.2:p.Leu543PhefsTer5
ENST00000638504.1:n.1480-104dup
ENST00000638568.2:c.1628dup	ENSP00000491158.2:p.Leu543PhefsTer5
ENST00000639899.1:n.2444dup
ENST00000640655.2:c.1628dup	ENSP00000491596.2:p.Leu543PhefsTer5
ENST00000651160.1:c.*16-104dup	ENSP00000498829.1:n.*16-104dup
ENST00000651658.1:n.2468dup
ENST00000651723.1:c.*2008dup	ENSP00000498237.1:n.*2008dup
ENST00000652016.1:c.*89-104dup	ENSP00000498267.1:n.*89-104dup
ENST00000652485.1:c.1958dup	ENSP00000498973.1:p.Leu653PhefsTer5
ENST00000378823.7:c.1925dup	ENSP00000368100.4:p.Leu642PhefsTer5
ENST00000423956.5:c.*111dup	ENSP00000390971.1:n.*111dup
ENST00000453394.5:c.1742dup	ENSP00000400049.1:p.Leu581PhefsTer5
ENST00000533482.5:c.*1551dup	ENSP00000431225.1:n.*1551dup
NM_005732.3:c.1925dup	NP_005723.2:p.Leu642PhefsTer5
NM_005732.4:c.1925dup MANE Select	NP_005723.2:p.Leu642PhefsTer5