Canonical Allele Identifier: CA2578402721

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604962_132604965dup , CM000667.2:g.132604962_132604965dup	GRCh38
NC_000005.9:g.131940654_131940657dup , CM000667.1:g.131940654_131940657dup	GRCh37
NC_000005.8:g.131968553_131968556dup	NCBI36
NG_021151.1:g.53039_53042dup
NG_021151.2:g.52986_52989dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2681_2684dup MANE Select	ENSP00000368100.4:p.Thr896IlefsTer3
ENST00000638452.2:c.2384_2387dup	ENSP00000492349.2:p.Thr797IlefsTer3
ENST00000638504.1:n.2289_2292dup
ENST00000638568.2:c.2384_2387dup	ENSP00000491158.2:p.Thr797IlefsTer3
ENST00000639899.1:n.3200_3203dup
ENST00000640655.2:c.2384_2387dup	ENSP00000491596.2:p.Thr797IlefsTer3
ENST00000651160.1:c.*825_*828dup	ENSP00000498829.1:n.*825_*828dup
ENST00000651723.1:c.*2764_*2767dup	ENSP00000498237.1:n.*2764_*2767dup
ENST00000652016.1:c.*898_*901dup	ENSP00000498267.1:n.*898_*901dup
ENST00000378823.7:c.2681_2684dup	ENSP00000368100.4:p.Thr896IlefsTer3
ENST00000423956.5:c.*867_*870dup	ENSP00000390971.1:n.*867_*870dup
ENST00000533482.5:c.*2307_*2310dup	ENSP00000431225.1:n.*2307_*2310dup
NM_005732.3:c.2681_2684dup	NP_005723.2:p.Thr896IlefsTer3
NM_005732.4:c.2681_2684dup MANE Select	NP_005723.2:p.Thr896IlefsTer3