Canonical Allele Identifier: CA2578402807
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132609161_132609169del , CM000667.2:g.132609161_132609169del GRCh38
NC_000005.9:g.131944853_131944861del , CM000667.1:g.131944853_131944861del GRCh37
NC_000005.8:g.131972752_131972760del NCBI36
NG_021151.1:g.57238_57246del
NG_021151.2:g.57185_57193del

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.2874_2882del MANE Select ENSP00000368100.4:p.Met958_Asp960del
ENST00000638452.2:c.2577_2585del ENSP00000492349.2:p.Met859_Asp861del
ENST00000638504.1:n.2482_2490del
ENST00000638568.2:c.2577_2585del ENSP00000491158.2:p.Met859_Asp861del
ENST00000639899.1:n.3393_3401del
ENST00000640655.2:c.2577_2585del ENSP00000491596.2:p.Met859_Asp861del
ENST00000651160.1:c.*1018_*1026del ENSP00000498829.1:n.*1018_*1026del
ENST00000651723.1:c.*2957_*2965del ENSP00000498237.1:n.*2957_*2965del
ENST00000378823.7:c.2874_2882del ENSP00000368100.4:p.Met958_Asp960del
ENST00000423956.5:c.*1060_*1068del ENSP00000390971.1:n.*1060_*1068del
ENST00000533482.5:c.*2500_*2508del ENSP00000431225.1:n.*2500_*2508del
NM_005732.3:c.2874_2882del NP_005723.2:p.Met958_Asp960del
NM_005732.4:c.2874_2882del MANE Select NP_005723.2:p.Met958_Asp960del