Canonical Allele Identifier: CA2768444417
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132609173_132609174del , CM000667.2:g.132609173_132609174del GRCh38
NC_000005.9:g.131944865_131944866del , CM000667.1:g.131944865_131944866del GRCh37
NC_000005.8:g.131972764_131972765del NCBI36
NG_021151.1:g.57250_57251del
NG_021151.2:g.57197_57198del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.2886_2887del MANE Select ENSP00000368100.4:p.Asn963LeufsTer10
ENST00000638452.2:c.2589_2590del ENSP00000492349.2:p.Asn864LeufsTer10
ENST00000638504.1:n.2494_2495del
ENST00000638568.2:c.2589_2590del ENSP00000491158.2:p.Asn864LeufsTer10
ENST00000639899.1:n.3405_3406del
ENST00000640655.2:c.2589_2590del ENSP00000491596.2:p.Asn864LeufsTer10
ENST00000651160.1:c.*1030_*1031del ENSP00000498829.1:n.*1030_*1031del
ENST00000651723.1:c.*2969_*2970del ENSP00000498237.1:n.*2969_*2970del
ENST00000378823.7:c.2886_2887del ENSP00000368100.4:p.Asn963LeufsTer10
ENST00000423956.5:c.*1072_*1073del ENSP00000390971.1:n.*1072_*1073del
ENST00000533482.5:c.*2512_*2513del ENSP00000431225.1:n.*2512_*2513del
NM_005732.3:c.2886_2887del NP_005723.2:p.Asn963LeufsTer10
NM_005732.4:c.2886_2887del MANE Select NP_005723.2:p.Asn963LeufsTer10