Canonical Allele Identifier: CA2580072662

Gene: RAD50

Linked Data

• ClinVar Variation Id: 2135740
• ClinVar RCV Id: RCV003048772

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595010del , CM000667.2:g.132595010del	GRCh38
NC_000005.9:g.131930702del , CM000667.1:g.131930702del	GRCh37
NC_000005.8:g.131958601del	NCBI36
NG_021151.1:g.43087del
NG_021151.2:g.43034del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1935del MANE Select	ENSP00000368100.4:p.Glu647ArgfsTer27
ENST00000638452.2:c.1638del	ENSP00000492349.2:p.Glu548ArgfsTer27
ENST00000638504.1:n.1480-94del
ENST00000638568.2:c.1638del	ENSP00000491158.2:p.Glu548ArgfsTer27
ENST00000639899.1:n.2454del
ENST00000640655.2:c.1638del	ENSP00000491596.2:p.Glu548ArgfsTer27
ENST00000651160.1:c.*16-94del	ENSP00000498829.1:n.*16-94del
ENST00000651658.1:n.2478del
ENST00000651723.1:c.*2018del	ENSP00000498237.1:n.*2018del
ENST00000652016.1:c.*89-94del	ENSP00000498267.1:n.*89-94del
ENST00000652485.1:c.1968del	ENSP00000498973.1:p.Glu658ArgfsTer27
ENST00000378823.7:c.1935del	ENSP00000368100.4:p.Glu647ArgfsTer27
ENST00000423956.5:c.*121del	ENSP00000390971.1:n.*121del
ENST00000453394.5:c.1752del	ENSP00000400049.1:p.Glu586ArgfsTer27
ENST00000533482.5:c.*1561del	ENSP00000431225.1:n.*1561del
NM_005732.3:c.1935del	NP_005723.2:p.Glu647ArgfsTer27
NM_005732.4:c.1935del MANE Select	NP_005723.2:p.Glu647ArgfsTer27