Canonical Allele Identifier: CA1583238098

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132588792_132588794delinsGAC , CM000667.2:g.132588792_132588794delinsGAC	GRCh38
NC_000005.9:g.131924484_131924486delinsGAC , CM000667.1:g.131924484_131924486delinsGAC	GRCh37
NC_000005.8:g.131952383_131952385delinsGAC	NCBI36
NG_021151.1:g.36869_36871delinsGAC
NG_021151.2:g.36816_36818delinsGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1157_1159delinsGAC MANE Select	ENSP00000368100.4:p.Gly386=
ENST00000638452.2:c.860_862delinsGAC	ENSP00000492349.2:p.Gly287=
ENST00000638504.1:n.843_845delinsGAC
ENST00000638568.2:c.860_862delinsGAC	ENSP00000491158.2:p.Gly287=
ENST00000639899.1:n.1676_1678delinsGAC
ENST00000640655.2:c.860_862delinsGAC	ENSP00000491596.2:p.Gly287=
ENST00000651160.1:c.1157_1159delinsGAC	ENSP00000498829.1:p.Gly386=
ENST00000651541.1:c.860_862delinsGAC	ENSP00000498795.1:p.Gly287=
ENST00000651658.1:n.1584_1586delinsGAC
ENST00000651723.1:c.*1240_*1242delinsGAC	ENSP00000498237.1:n.*1240_*1242delinsGAC
ENST00000652016.1:c.1157_1159delinsGAC	ENSP00000498267.1:p.Gly386=
ENST00000652485.1:c.1157_1159delinsGAC	ENSP00000498973.1:p.Gly386=
ENST00000378823.7:c.1157_1159delinsGAC	ENSP00000368100.4:p.Gly386=
ENST00000423956.5:c.1157_1159delinsGAC	ENSP00000390971.1:p.Gly386=
ENST00000453394.5:c.1157_1159delinsGAC	ENSP00000400049.1:p.Gly386=
ENST00000487596.1:n.723_725delinsGAC
ENST00000533482.5:c.*783_*785delinsGAC	ENSP00000431225.1:n.*783_*785delinsGAC
NM_005732.3:c.1157_1159delinsGAC	NP_005723.2:p.Gly386=
NM_005732.4:c.1157_1159delinsGAC MANE Select	NP_005723.2:p.Gly386=