Canonical Allele Identifier: CA1583237740
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132588433_132588435delinsAAT , CM000667.2:g.132588433_132588435delinsAAT GRCh38
NC_000005.9:g.131924125_131924127delinsAAT , CM000667.1:g.131924125_131924127delinsAAT GRCh37
NC_000005.8:g.131952024_131952026delinsAAT NCBI36
NG_021151.1:g.36510_36512delinsAAT
NG_021151.2:g.36457_36459delinsAAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.1052-254_1052-252delinsAAT MANE Select ENSP00000368100.4:n.1052-254_1052-252delinsAAT
ENST00000638452.2:c.755-254_755-252delinsAAT ENSP00000492349.2:n.755-254_755-252delinsAAT
ENST00000638504.1:n.738-254_738-252delinsAAT
ENST00000638568.2:c.755-254_755-252delinsAAT ENSP00000491158.2:n.755-254_755-252delinsAAT
ENST00000639899.1:n.1571-254_1571-252delinsAAT
ENST00000640655.2:c.755-254_755-252delinsAAT ENSP00000491596.2:n.755-254_755-252delinsAAT
ENST00000651160.1:c.1052-254_1052-252delinsAAT ENSP00000498829.1:n.1052-254_1052-252delinsAAT
ENST00000651541.1:c.755-254_755-252delinsAAT ENSP00000498795.1:n.755-254_755-252delinsAAT
ENST00000651658.1:n.1479-254_1479-252delinsAAT
ENST00000651723.1:c.*1135-254_*1135-252delinsAAT ENSP00000498237.1:n.*1135-254_*1135-252delinsAAT
ENST00000652016.1:c.1052-254_1052-252delinsAAT ENSP00000498267.1:n.1052-254_1052-252delinsAAT
ENST00000652485.1:c.1052-254_1052-252delinsAAT ENSP00000498973.1:n.1052-254_1052-252delinsAAT
ENST00000378823.7:c.1052-254_1052-252delinsAAT ENSP00000368100.4:n.1052-254_1052-252delinsAAT
ENST00000423956.5:c.1052-254_1052-252delinsAAT ENSP00000390971.1:n.1052-254_1052-252delinsAAT
ENST00000453394.5:c.1052-254_1052-252delinsAAT ENSP00000400049.1:n.1052-254_1052-252delinsAAT
ENST00000487596.1:n.618-254_618-252delinsAAT
ENST00000533482.5:c.*678-254_*678-252delinsAAT ENSP00000431225.1:n.*678-254_*678-252delinsAAT
NM_005732.3:c.1052-254_1052-252delinsAAT NP_005723.2:n.1052-254_1052-252delinsAAT
NM_005732.4:c.1052-254_1052-252delinsAAT MANE Select NP_005723.2:n.1052-254_1052-252delinsAAT