Canonical Allele Identifier: CA1583226838

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132579322_132579336delinsGTGAAAAGGTCAGTC , CM000667.2:g.132579322_132579336delinsGTGAAAAGGTCAGTC	GRCh38
NC_000005.9:g.131915014_131915028delinsGTGAAAAGGTCAGTC , CM000667.1:g.131915014_131915028delinsGTGAAAAGGTCAGTC	GRCh37
NC_000005.8:g.131942913_131942927delinsGTGAAAAGGTCAGTC	NCBI36
NG_021151.1:g.27399_27413delinsGTGAAAAGGTCAGTC
NG_021151.2:g.27346_27360delinsGTGAAAAGGTCAGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.371_385delinsGTGAAAAGGTCAGTC MANE Select	ENSP00000368100.4:p.Gly124=
ENST00000638452.2:c.74_88delinsGTGAAAAGGTCAGTC	ENSP00000492349.2:p.Gly25=
ENST00000638504.1:n.442+3394_442+3408delinsGTGAAAAGGTCAGTC
ENST00000638568.2:c.74_88delinsGTGAAAAGGTCAGTC	ENSP00000491158.2:p.Gly25=
ENST00000639899.1:n.531_545delinsGTGAAAAGGTCAGTC
ENST00000640655.2:c.74_88delinsGTGAAAAGGTCAGTC	ENSP00000491596.2:p.Gly25=
ENST00000651160.1:c.371_385delinsGTGAAAAGGTCAGTC	ENSP00000498829.1:p.Gly124=
ENST00000651541.1:c.74_88delinsGTGAAAAGGTCAGTC	ENSP00000498795.1:p.Gly25=
ENST00000651658.1:n.439_453delinsGTGAAAAGGTCAGTC
ENST00000651723.1:c.*454_*468delinsGTGAAAAGGTCAGTC	ENSP00000498237.1:n.*454_*468delinsGTGAAAAGGTCAGTC
ENST00000652016.1:c.371_385delinsGTGAAAAGGTCAGTC	ENSP00000498267.1:p.Gly124=
ENST00000652485.1:c.371_385delinsGTGAAAAGGTCAGTC	ENSP00000498973.1:p.Gly124=
ENST00000378823.7:c.371_385delinsGTGAAAAGGTCAGTC	ENSP00000368100.4:p.Gly124=
ENST00000416135.5:c.74_88delinsGTGAAAAGGTCAGTC	ENSP00000389515.1:p.Gly25=
ENST00000423956.5:c.371_385delinsGTGAAAAGGTCAGTC	ENSP00000390971.1:p.Gly124=
ENST00000453394.5:c.371_385delinsGTGAAAAGGTCAGTC	ENSP00000400049.1:p.Gly124=
ENST00000533482.5:c.306_*11delinsGTGAAAAGGTCAGTC	ENSP00000431225.1:n.[c.306_*11delinsGTGAAAAGGTCAGTC;Trp102=]
NM_005732.3:c.371_385delinsGTGAAAAGGTCAGTC	NP_005723.2:p.Gly124=
NM_005732.4:c.371_385delinsGTGAAAAGGTCAGTC MANE Select	NP_005723.2:p.Gly124=