Canonical Allele Identifier: CA804018872

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1074938
• ClinVar RCV Id: RCV001388389
• dbSNP Id: rs1303748284
• MyVariant Identifiers: chr5:g.131915117_131915124del (hg19) ; chr5:g.132579425_132579432del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132579425_132579432del , CM000667.2:g.132579425_132579432del	GRCh38
NC_000005.9:g.131915117_131915124del , CM000667.1:g.131915117_131915124del	GRCh37
NC_000005.8:g.131943016_131943023del	NCBI36
NG_021151.1:g.27502_27509del
NG_021151.2:g.27449_27456del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.474_481del MANE Select	ENSP00000368100.4:p.His158GlnfsTer3
ENST00000638452.2:c.177_184del	ENSP00000492349.2:p.His59GlnfsTer3
ENST00000638504.1:n.442+3497_442+3504del
ENST00000638568.2:c.177_184del	ENSP00000491158.2:p.His59GlnfsTer3
ENST00000639899.1:n.634_641del
ENST00000640655.2:c.177_184del	ENSP00000491596.2:p.His59GlnfsTer3
ENST00000651160.1:c.474_481del	ENSP00000498829.1:p.His158GlnfsTer3
ENST00000651541.1:c.177_184del	ENSP00000498795.1:p.His59GlnfsTer3
ENST00000651658.1:n.542_549del
ENST00000651723.1:c.*557_*564del	ENSP00000498237.1:n.*557_*564del
ENST00000652016.1:c.474_481del	ENSP00000498267.1:p.His158GlnfsTer3
ENST00000652485.1:c.474_481del	ENSP00000498973.1:p.His158GlnfsTer3
ENST00000378823.7:c.474_481del	ENSP00000368100.4:p.His158GlnfsTer3
ENST00000416135.5:c.177_184del	ENSP00000389515.1:p.His59GlnfsTer3
ENST00000423956.5:c.474_481del	ENSP00000390971.1:p.His158GlnfsTer3
ENST00000453394.5:c.474_481del	ENSP00000400049.1:p.His158GlnfsTer3
ENST00000533482.5:c.*100_*107del	ENSP00000431225.1:n.*100_*107del
NM_005732.3:c.474_481del	NP_005723.2:p.His158GlnfsTer3
NM_005732.4:c.474_481del MANE Select	NP_005723.2:p.His158GlnfsTer3