Canonical Allele Identifier: CA2580072710

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1797766
• ClinVar RCV Id: RCV002440016
• gnomAD v4: 5-132609283-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609288del , CM000667.2:g.132609288del	GRCh38
NC_000005.9:g.131944980del , CM000667.1:g.131944980del	GRCh37
NC_000005.8:g.131972879del	NCBI36
NG_021151.1:g.57365del
NG_021151.2:g.57312del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2928del MANE Select	ENSP00000368100.4:p.Glu977LysfsTer7
ENST00000638452.2:c.2631del	ENSP00000492349.2:p.Glu878LysfsTer7
ENST00000638504.1:n.2536del
ENST00000638568.2:c.2631del	ENSP00000491158.2:p.Glu878LysfsTer7
ENST00000639899.1:n.3447del
ENST00000640655.2:c.2631del	ENSP00000491596.2:p.Glu878LysfsTer7
ENST00000651160.1:c.*1072del	ENSP00000498829.1:n.*1072del
ENST00000651723.1:c.*3011del	ENSP00000498237.1:n.*3011del
ENST00000378823.7:c.2928del	ENSP00000368100.4:p.Glu977LysfsTer7
ENST00000423956.5:c.*1114del	ENSP00000390971.1:n.*1114del
ENST00000533482.5:c.*2554del	ENSP00000431225.1:n.*2554del
NM_005732.3:c.2928del	NP_005723.2:p.Glu977LysfsTer7
NM_005732.4:c.2928del MANE Select	NP_005723.2:p.Glu977LysfsTer7