Canonical Allele Identifier: CA1583239690
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132589881_132589882delinsCT , CM000667.2:g.132589881_132589882delinsCT GRCh38
NC_000005.9:g.131925573_131925574delinsCT , CM000667.1:g.131925573_131925574delinsCT GRCh37
NC_000005.8:g.131953472_131953473delinsCT NCBI36
NG_021151.1:g.37958_37959delinsCT
NG_021151.2:g.37905_37906delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.1452+44_1452+45delinsCT MANE Select ENSP00000368100.4:n.1452+44_1452+45delinsCT
ENST00000638452.2:c.1155+44_1155+45delinsCT ENSP00000492349.2:n.1155+44_1155+45delinsCT
ENST00000638504.1:n.1138+44_1138+45delinsCT
ENST00000638568.2:c.1155+44_1155+45delinsCT ENSP00000491158.2:n.1155+44_1155+45delinsCT
ENST00000639899.1:n.1971+44_1971+45delinsCT
ENST00000640655.2:c.1155+44_1155+45delinsCT ENSP00000491596.2:n.1155+44_1155+45delinsCT
ENST00000651160.1:c.1452+44_1452+45delinsCT ENSP00000498829.1:n.1452+44_1452+45delinsCT
ENST00000651541.1:c.1155+44_1155+45delinsCT ENSP00000498795.1:n.1155+44_1155+45delinsCT
ENST00000651658.1:n.1879+44_1879+45delinsCT
ENST00000651723.1:c.*1535+44_*1535+45delinsCT ENSP00000498237.1:n.*1535+44_*1535+45delinsCT
ENST00000652016.1:c.1452+44_1452+45delinsCT ENSP00000498267.1:n.1452+44_1452+45delinsCT
ENST00000652485.1:c.1452+44_1452+45delinsCT ENSP00000498973.1:n.1452+44_1452+45delinsCT
ENST00000378823.7:c.1452+44_1452+45delinsCT ENSP00000368100.4:n.1452+44_1452+45delinsCT
ENST00000423956.5:c.1452+44_1452+45delinsCT ENSP00000390971.1:n.1452+44_1452+45delinsCT
ENST00000453394.5:c.1452+44_1452+45delinsCT ENSP00000400049.1:n.1452+44_1452+45delinsCT
ENST00000533482.5:c.*1078+44_*1078+45delinsCT ENSP00000431225.1:n.*1078+44_*1078+45delinsCT
NM_005732.3:c.1452+44_1452+45delinsCT NP_005723.2:n.1452+44_1452+45delinsCT
NM_005732.4:c.1452+44_1452+45delinsCT MANE Select NP_005723.2:n.1452+44_1452+45delinsCT