Canonical Allele Identifier: CA1583225184
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132575747_132575749delinsCAT , CM000667.2:g.132575747_132575749delinsCAT GRCh38
NC_000005.9:g.131911439_131911441delinsCAT , CM000667.1:g.131911439_131911441delinsCAT GRCh37
NC_000005.8:g.131939338_131939340delinsCAT NCBI36
NG_021151.1:g.23824_23826delinsCAT
NG_021151.2:g.23771_23773delinsCAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.214-30_214-28delinsCAT MANE Select ENSP00000368100.4:n.214-30_214-28delinsCAT
ENST00000638452.2:c.-84-30_-84-28delinsCAT ENSP00000492349.2:n.-84-30_-84-28delinsCAT
ENST00000638504.1:n.291-30_291-28delinsCAT
ENST00000638568.2:c.-84-30_-84-28delinsCAT ENSP00000491158.2:n.-84-30_-84-28delinsCAT
ENST00000639899.1:n.374-30_374-28delinsCAT
ENST00000640655.2:c.-84-30_-84-28delinsCAT ENSP00000491596.2:n.-84-30_-84-28delinsCAT
ENST00000651160.1:c.214-30_214-28delinsCAT ENSP00000498829.1:n.214-30_214-28delinsCAT
ENST00000651541.1:c.-84-30_-84-28delinsCAT ENSP00000498795.1:n.-84-30_-84-28delinsCAT
ENST00000651658.1:n.282-30_282-28delinsCAT
ENST00000651723.1:c.*362-30_*362-28delinsCAT ENSP00000498237.1:n.*362-30_*362-28delinsCAT
ENST00000652016.1:c.214-30_214-28delinsCAT ENSP00000498267.1:n.214-30_214-28delinsCAT
ENST00000652485.1:c.214-30_214-28delinsCAT ENSP00000498973.1:n.214-30_214-28delinsCAT
ENST00000378823.7:c.214-30_214-28delinsCAT ENSP00000368100.4:n.214-30_214-28delinsCAT
ENST00000416135.5:c.-84-30_-84-28delinsCAT ENSP00000389515.1:n.-84-30_-84-28delinsCAT
ENST00000423956.5:c.214-30_214-28delinsCAT ENSP00000390971.1:n.214-30_214-28delinsCAT
ENST00000453394.5:c.214-30_214-28delinsCAT ENSP00000400049.1:n.214-30_214-28delinsCAT
ENST00000533482.5:c.214-30_214-28delinsCAT ENSP00000431225.1:n.214-30_214-28delinsCAT
NM_005732.3:c.214-30_214-28delinsCAT NP_005723.2:n.214-30_214-28delinsCAT
NM_005732.4:c.214-30_214-28delinsCAT MANE Select NP_005723.2:n.214-30_214-28delinsCAT