Canonical Allele Identifier: CA1583229555
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132609146_132609150delinsTATTC , CM000667.2:g.132609146_132609150delinsTATTC GRCh38
NC_000005.9:g.131944838_131944842delinsTATTC , CM000667.1:g.131944838_131944842delinsTATTC GRCh37
NC_000005.8:g.131972737_131972741delinsTATTC NCBI36
NG_021151.1:g.57223_57227delinsTATTC
NG_021151.2:g.57170_57174delinsTATTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.2859_2863delinsTATTC MANE Select ENSP00000368100.4:p.Asn953=
ENST00000638452.2:c.2562_2566delinsTATTC ENSP00000492349.2:p.Asn854=
ENST00000638504.1:n.2467_2471delinsTATTC
ENST00000638568.2:c.2562_2566delinsTATTC ENSP00000491158.2:p.Asn854=
ENST00000639899.1:n.3378_3382delinsTATTC
ENST00000640655.2:c.2562_2566delinsTATTC ENSP00000491596.2:p.Asn854=
ENST00000651160.1:c.*1003_*1007delinsTATTC ENSP00000498829.1:n.*1003_*1007delinsTATTC
ENST00000651723.1:c.*2942_*2946delinsTATTC ENSP00000498237.1:n.*2942_*2946delinsTATTC
ENST00000378823.7:c.2859_2863delinsTATTC ENSP00000368100.4:p.Asn953=
ENST00000423956.5:c.*1045_*1049delinsTATTC ENSP00000390971.1:n.*1045_*1049delinsTATTC
ENST00000533482.5:c.*2485_*2489delinsTATTC ENSP00000431225.1:n.*2485_*2489delinsTATTC
NM_005732.3:c.2859_2863delinsTATTC NP_005723.2:p.Asn953=
NM_005732.4:c.2859_2863delinsTATTC MANE Select NP_005723.2:p.Asn953=