Canonical Allele Identifier: CA2695205139

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132588721_132588723dup , CM000667.2:g.132588721_132588723dup	GRCh38
NC_000005.9:g.131924413_131924415dup , CM000667.1:g.131924413_131924415dup	GRCh37
NC_000005.8:g.131952312_131952314dup	NCBI36
NG_021151.1:g.36798_36800dup
NG_021151.2:g.36745_36747dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1086_1088dup MANE Select	ENSP00000368100.4:p.Glu362_His363insGln
ENST00000638452.2:c.789_791dup	ENSP00000492349.2:p.Glu263_His264insGln
ENST00000638504.1:n.772_774dup
ENST00000638568.2:c.789_791dup	ENSP00000491158.2:p.Glu263_His264insGln
ENST00000639899.1:n.1605_1607dup
ENST00000640655.2:c.789_791dup	ENSP00000491596.2:p.Glu263_His264insGln
ENST00000651160.1:c.1086_1088dup	ENSP00000498829.1:p.Glu362_His363insGln
ENST00000651541.1:c.789_791dup	ENSP00000498795.1:p.Glu263_His264insGln
ENST00000651658.1:n.1513_1515dup
ENST00000651723.1:c.*1169_*1171dup	ENSP00000498237.1:n.*1169_*1171dup
ENST00000652016.1:c.1086_1088dup	ENSP00000498267.1:p.Glu362_His363insGln
ENST00000652485.1:c.1086_1088dup	ENSP00000498973.1:p.Glu362_His363insGln
ENST00000378823.7:c.1086_1088dup	ENSP00000368100.4:p.Glu362_His363insGln
ENST00000423956.5:c.1086_1088dup	ENSP00000390971.1:p.Glu362_His363insGln
ENST00000453394.5:c.1086_1088dup	ENSP00000400049.1:p.Glu362_His363insGln
ENST00000487596.1:n.652_654dup
ENST00000533482.5:c.*712_*714dup	ENSP00000431225.1:n.*712_*714dup
NM_005732.3:c.1086_1088dup	NP_005723.2:p.Glu362_His363insGln
NM_005732.4:c.1086_1088dup MANE Select	NP_005723.2:p.Glu362_His363insGln