Canonical Allele Identifier: CA658657506

Gene: RAD50

Linked Data

• ClinVar Variation Id: 457373
• ClinVar RCV Id: RCV000540486
• dbSNP Id: rs1554098316
• MyVariant Identifiers: chr5:g.131925372_131925376del (hg19) ; chr5:g.132589680_132589684del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132589680_132589684del , CM000667.2:g.132589680_132589684del	GRCh38
NC_000005.9:g.131925372_131925376del , CM000667.1:g.131925372_131925376del	GRCh37
NC_000005.8:g.131953271_131953275del	NCBI36
NG_021151.1:g.37757_37761del
NG_021151.2:g.37704_37708del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1295_1299del MANE Select	ENSP00000368100.4:p.Ile432ArgfsTer2
ENST00000638452.2:c.998_1002del	ENSP00000492349.2:p.Ile333ArgfsTer2
ENST00000638504.1:n.981_985del
ENST00000638568.2:c.998_1002del	ENSP00000491158.2:p.Ile333ArgfsTer2
ENST00000639899.1:n.1814_1818del
ENST00000640655.2:c.998_1002del	ENSP00000491596.2:p.Ile333ArgfsTer2
ENST00000651160.1:c.1295_1299del	ENSP00000498829.1:p.Ile432ArgfsTer2
ENST00000651541.1:c.998_1002del	ENSP00000498795.1:p.Ile333ArgfsTer2
ENST00000651658.1:n.1722_1726del
ENST00000651723.1:c.*1378_*1382del	ENSP00000498237.1:n.*1378_*1382del
ENST00000652016.1:c.1295_1299del	ENSP00000498267.1:p.Ile432ArgfsTer2
ENST00000652485.1:c.1295_1299del	ENSP00000498973.1:p.Ile432ArgfsTer2
ENST00000378823.7:c.1295_1299del	ENSP00000368100.4:p.Ile432ArgfsTer2
ENST00000423956.5:c.1295_1299del	ENSP00000390971.1:p.Ile432ArgfsTer2
ENST00000453394.5:c.1295_1299del	ENSP00000400049.1:p.Ile432ArgfsTer2
ENST00000533482.5:c.*921_*925del	ENSP00000431225.1:n.*921_*925del
NM_005732.3:c.1295_1299del	NP_005723.2:p.Ile432ArgfsTer2
NM_005732.4:c.1295_1299del MANE Select	NP_005723.2:p.Ile432ArgfsTer2