Canonical Allele Identifier: CA1583238980
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132589643_132589644delinsGA , CM000667.2:g.132589643_132589644delinsGA GRCh38
NC_000005.9:g.131925335_131925336delinsGA , CM000667.1:g.131925335_131925336delinsGA GRCh37
NC_000005.8:g.131953234_131953235delinsGA NCBI36
NG_021151.1:g.37720_37721delinsGA
NG_021151.2:g.37667_37668delinsGA

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.1258_1259delinsGA MANE Select ENSP00000368100.4:p.Glu420=
ENST00000638452.2:c.961_962delinsGA ENSP00000492349.2:p.Glu321=
ENST00000638504.1:n.944_945delinsGA
ENST00000638568.2:c.961_962delinsGA ENSP00000491158.2:p.Glu321=
ENST00000639899.1:n.1777_1778delinsGA
ENST00000640655.2:c.961_962delinsGA ENSP00000491596.2:p.Glu321=
ENST00000651160.1:c.1258_1259delinsGA ENSP00000498829.1:p.Glu420=
ENST00000651541.1:c.961_962delinsGA ENSP00000498795.1:p.Glu321=
ENST00000651658.1:n.1685_1686delinsGA
ENST00000651723.1:c.*1341_*1342delinsGA ENSP00000498237.1:n.*1341_*1342delinsGA
ENST00000652016.1:c.1258_1259delinsGA ENSP00000498267.1:p.Glu420=
ENST00000652485.1:c.1258_1259delinsGA ENSP00000498973.1:p.Glu420=
ENST00000378823.7:c.1258_1259delinsGA ENSP00000368100.4:p.Glu420=
ENST00000423956.5:c.1258_1259delinsGA ENSP00000390971.1:p.Glu420=
ENST00000453394.5:c.1258_1259delinsGA ENSP00000400049.1:p.Glu420=
ENST00000533482.5:c.*884_*885delinsGA ENSP00000431225.1:n.*884_*885delinsGA
NM_005732.3:c.1258_1259delinsGA NP_005723.2:p.Glu420=
NM_005732.4:c.1258_1259delinsGA MANE Select NP_005723.2:p.Glu420=