Canonical Allele Identifier: CA2573139075

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1442252
• ClinVar RCV Id: RCV001941466
• dbSNP Id: rs2149837756

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132579419del , CM000667.2:g.132579419del	GRCh38
NC_000005.9:g.131915111del , CM000667.1:g.131915111del	GRCh37
NC_000005.8:g.131943010del	NCBI36
NG_021151.1:g.27496del
NG_021151.2:g.27443del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.468del MANE Select	ENSP00000368100.4:p.Cys157ValfsTer10
ENST00000638452.2:c.171del	ENSP00000492349.2:p.Cys58ValfsTer10
ENST00000638504.1:n.442+3491del
ENST00000638568.2:c.171del	ENSP00000491158.2:p.Cys58ValfsTer10
ENST00000639899.1:n.628del
ENST00000640655.2:c.171del	ENSP00000491596.2:p.Cys58ValfsTer10
ENST00000651160.1:c.468del	ENSP00000498829.1:p.Cys157ValfsTer10
ENST00000651541.1:c.171del	ENSP00000498795.1:p.Cys58ValfsTer10
ENST00000651658.1:n.536del
ENST00000651723.1:c.*551del	ENSP00000498237.1:n.*551del
ENST00000652016.1:c.468del	ENSP00000498267.1:p.Cys157ValfsTer10
ENST00000652485.1:c.468del	ENSP00000498973.1:p.Cys157ValfsTer10
ENST00000378823.7:c.468del	ENSP00000368100.4:p.Cys157ValfsTer10
ENST00000416135.5:c.171del	ENSP00000389515.1:p.Cys58ValfsTer10
ENST00000423956.5:c.468del	ENSP00000390971.1:p.Cys157ValfsTer10
ENST00000453394.5:c.468del	ENSP00000400049.1:p.Cys157ValfsTer10
ENST00000533482.5:c.*94del	ENSP00000431225.1:n.*94del
NM_005732.3:c.468del	NP_005723.2:p.Cys157ValfsTer10
NM_005732.4:c.468del MANE Select	NP_005723.2:p.Cys157ValfsTer10