Canonical Allele Identifier: CA1583239456

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132589785_132589789delinsTGGAA , CM000667.2:g.132589785_132589789delinsTGGAA	GRCh38
NC_000005.9:g.131925477_131925481delinsTGGAA , CM000667.1:g.131925477_131925481delinsTGGAA	GRCh37
NC_000005.8:g.131953376_131953380delinsTGGAA	NCBI36
NG_021151.1:g.37862_37866delinsTGGAA
NG_021151.2:g.37809_37813delinsTGGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1400_1404delinsTGGAA MANE Select	ENSP00000368100.4:p.Leu467=
ENST00000638452.2:c.1103_1107delinsTGGAA	ENSP00000492349.2:p.Leu368=
ENST00000638504.1:n.1086_1090delinsTGGAA
ENST00000638568.2:c.1103_1107delinsTGGAA	ENSP00000491158.2:p.Leu368=
ENST00000639899.1:n.1919_1923delinsTGGAA
ENST00000640655.2:c.1103_1107delinsTGGAA	ENSP00000491596.2:p.Leu368=
ENST00000651160.1:c.1400_1404delinsTGGAA	ENSP00000498829.1:p.Leu467=
ENST00000651541.1:c.1103_1107delinsTGGAA	ENSP00000498795.1:p.Leu368=
ENST00000651658.1:n.1827_1831delinsTGGAA
ENST00000651723.1:c.*1483_*1487delinsTGGAA	ENSP00000498237.1:n.*1483_*1487delinsTGGAA
ENST00000652016.1:c.1400_1404delinsTGGAA	ENSP00000498267.1:p.Leu467=
ENST00000652485.1:c.1400_1404delinsTGGAA	ENSP00000498973.1:p.Leu467=
ENST00000378823.7:c.1400_1404delinsTGGAA	ENSP00000368100.4:p.Leu467=
ENST00000423956.5:c.1400_1404delinsTGGAA	ENSP00000390971.1:p.Leu467=
ENST00000453394.5:c.1400_1404delinsTGGAA	ENSP00000400049.1:p.Leu467=
ENST00000533482.5:c.*1026_*1030delinsTGGAA	ENSP00000431225.1:n.*1026_*1030delinsTGGAA
NM_005732.3:c.1400_1404delinsTGGAA	NP_005723.2:p.Leu467=
NM_005732.4:c.1400_1404delinsTGGAA MANE Select	NP_005723.2:p.Leu467=