Canonical Allele Identifier: CA1583233397
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132617985_132617986delinsCT , CM000667.2:g.132617985_132617986delinsCT GRCh38
NC_000005.9:g.131953677_131953678delinsCT , CM000667.1:g.131953677_131953678delinsCT GRCh37
NC_000005.8:g.131981576_131981577delinsCT NCBI36
NG_021151.1:g.66062_66063delinsCT
NG_021151.2:g.66009_66010delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.3165-85_3165-84delinsCT MANE Select ENSP00000368100.4:n.3165-85_3165-84delinsCT
ENST00000638452.2:c.2868-85_2868-84delinsCT ENSP00000492349.2:n.2868-85_2868-84delinsCT
ENST00000638504.1:n.2773-85_2773-84delinsCT
ENST00000638568.2:c.2868-85_2868-84delinsCT ENSP00000491158.2:n.2868-85_2868-84delinsCT
ENST00000639899.1:n.3684-85_3684-84delinsCT
ENST00000640655.2:c.2868-85_2868-84delinsCT ENSP00000491596.2:n.2868-85_2868-84delinsCT
ENST00000378823.7:c.3165-85_3165-84delinsCT ENSP00000368100.4:n.3165-85_3165-84delinsCT
ENST00000533482.5:c.*2791-85_*2791-84delinsCT ENSP00000431225.1:n.*2791-85_*2791-84delinsCT
NM_005732.3:c.3165-85_3165-84delinsCT NP_005723.2:n.3165-85_3165-84delinsCT
NM_005732.4:c.3165-85_3165-84delinsCT MANE Select NP_005723.2:n.3165-85_3165-84delinsCT