Canonical Allele Identifier: CA804023933

Gene: RAD50

Linked Data

• ClinVar Variation Id: 849771
• ClinVar RCV Id: RCV001053802
• dbSNP Id: rs1463759914
• MyVariant Identifiers: chr5:g.131925388_131925389del (hg19) ; chr5:g.132589696_132589697del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132589696_132589697del , CM000667.2:g.132589696_132589697del	GRCh38
NC_000005.9:g.131925388_131925389del , CM000667.1:g.131925388_131925389del	GRCh37
NC_000005.8:g.131953287_131953288del	NCBI36
NG_021151.1:g.37773_37774del
NG_021151.2:g.37720_37721del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.1311_1312del MANE Select	ENSP00000368100.4:p.Gly438ThrfsTer6
ENST00000638452.2:c.1014_1015del	ENSP00000492349.2:p.Gly339ThrfsTer6
ENST00000638504.1:n.997_998del
ENST00000638568.2:c.1014_1015del	ENSP00000491158.2:p.Gly339ThrfsTer6
ENST00000639899.1:n.1830_1831del
ENST00000640655.2:c.1014_1015del	ENSP00000491596.2:p.Gly339ThrfsTer6
ENST00000651160.1:c.1311_1312del	ENSP00000498829.1:p.Gly438ThrfsTer6
ENST00000651541.1:c.1014_1015del	ENSP00000498795.1:p.Gly339ThrfsTer6
ENST00000651658.1:n.1738_1739del
ENST00000651723.1:c.*1394_*1395del	ENSP00000498237.1:n.*1394_*1395del
ENST00000652016.1:c.1311_1312del	ENSP00000498267.1:p.Gly438ThrfsTer6
ENST00000652485.1:c.1311_1312del	ENSP00000498973.1:p.Gly438ThrfsTer6
ENST00000378823.7:c.1311_1312del	ENSP00000368100.4:p.Gly438ThrfsTer6
ENST00000423956.5:c.1311_1312del	ENSP00000390971.1:p.Gly438ThrfsTer6
ENST00000453394.5:c.1311_1312del	ENSP00000400049.1:p.Gly438ThrfsTer6
ENST00000533482.5:c.*937_*938del	ENSP00000431225.1:n.*937_*938del
NM_005732.3:c.1311_1312del	NP_005723.2:p.Gly438ThrfsTer6
NM_005732.4:c.1311_1312del MANE Select	NP_005723.2:p.Gly438ThrfsTer6