Canonical Allele Identifier: CA1583238062

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132588766_132588767delinsGC , CM000667.2:g.132588766_132588767delinsGC	GRCh38
NC_000005.9:g.131924458_131924459delinsGC , CM000667.1:g.131924458_131924459delinsGC	GRCh37
NC_000005.8:g.131952357_131952358delinsGC	NCBI36
NG_021151.1:g.36843_36844delinsGC
NG_021151.2:g.36790_36791delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1131_1132delinsGC MANE Select	ENSP00000368100.4:p.Gln377=
ENST00000638452.2:c.834_835delinsGC	ENSP00000492349.2:p.Gln278=
ENST00000638504.1:n.817_818delinsGC
ENST00000638568.2:c.834_835delinsGC	ENSP00000491158.2:p.Gln278=
ENST00000639899.1:n.1650_1651delinsGC
ENST00000640655.2:c.834_835delinsGC	ENSP00000491596.2:p.Gln278=
ENST00000651160.1:c.1131_1132delinsGC	ENSP00000498829.1:p.Gln377=
ENST00000651541.1:c.834_835delinsGC	ENSP00000498795.1:p.Gln278=
ENST00000651658.1:n.1558_1559delinsGC
ENST00000651723.1:c.*1214_*1215delinsGC	ENSP00000498237.1:n.*1214_*1215delinsGC
ENST00000652016.1:c.1131_1132delinsGC	ENSP00000498267.1:p.Gln377=
ENST00000652485.1:c.1131_1132delinsGC	ENSP00000498973.1:p.Gln377=
ENST00000378823.7:c.1131_1132delinsGC	ENSP00000368100.4:p.Gln377=
ENST00000423956.5:c.1131_1132delinsGC	ENSP00000390971.1:p.Gln377=
ENST00000453394.5:c.1131_1132delinsGC	ENSP00000400049.1:p.Gln377=
ENST00000487596.1:n.697_698delinsGC
ENST00000533482.5:c.*757_*758delinsGC	ENSP00000431225.1:n.*757_*758delinsGC
NM_005732.3:c.1131_1132delinsGC	NP_005723.2:p.Gln377=
NM_005732.4:c.1131_1132delinsGC MANE Select	NP_005723.2:p.Gln377=