Canonical Allele Identifier: CA658657507

Gene: RAD50

Linked Data

• dbSNP Id: rs1554098318

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132589700_132589702delinsATT , CM000667.2:g.132589700_132589702delinsATT	GRCh38
NC_000005.9:g.131925392_131925394delinsATT , CM000667.1:g.131925392_131925394delinsATT	GRCh37
NC_000005.8:g.131953291_131953293delinsATT	NCBI36
NG_021151.1:g.37777_37779delinsATT
NG_021151.2:g.37724_37726delinsATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1315_1317delinsATT MANE Select	ENSP00000368100.4:p.Leu439Ile
ENST00000638452.2:c.1018_1020delinsATT	ENSP00000492349.2:p.Leu340Ile
ENST00000638504.1:n.1001_1003delinsATT
ENST00000638568.2:c.1018_1020delinsATT	ENSP00000491158.2:p.Leu340Ile
ENST00000639899.1:n.1834_1836delinsATT
ENST00000640655.2:c.1018_1020delinsATT	ENSP00000491596.2:p.Leu340Ile
ENST00000651160.1:c.1315_1317delinsATT	ENSP00000498829.1:p.Leu439Ile
ENST00000651541.1:c.1018_1020delinsATT	ENSP00000498795.1:p.Leu340Ile
ENST00000651658.1:n.1742_1744delinsATT
ENST00000651723.1:c.*1398_*1400delinsATT	ENSP00000498237.1:n.*1398_*1400delinsATT
ENST00000652016.1:c.1315_1317delinsATT	ENSP00000498267.1:p.Leu439Ile
ENST00000652485.1:c.1315_1317delinsATT	ENSP00000498973.1:p.Leu439Ile
ENST00000378823.7:c.1315_1317delinsATT	ENSP00000368100.4:p.Leu439Ile
ENST00000423956.5:c.1315_1317delinsATT	ENSP00000390971.1:p.Leu439Ile
ENST00000453394.5:c.1315_1317delinsATT	ENSP00000400049.1:p.Leu439Ile
ENST00000533482.5:c.*941_*943delinsATT	ENSP00000431225.1:n.*941_*943delinsATT
NM_005732.3:c.1315_1317delinsATT	NP_005723.2:p.Leu439Ile
NM_005732.4:c.1315_1317delinsATT MANE Select	NP_005723.2:p.Leu439Ile