Canonical Allele Identifier: CA3405153
Gene: RAD50 HGNC NCBI

Linked Data

dbSNP Id: rs587780147

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132589685_132589691del , CM000667.2:g.132589685_132589691del GRCh38
NC_000005.9:g.131925377_131925383del , CM000667.1:g.131925377_131925383del GRCh37
NC_000005.8:g.131953276_131953282del NCBI36
NG_021151.1:g.37762_37768del
NG_021151.2:g.37709_37715del

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.1300_1306del MANE Select ENSP00000368100.4:p.Asp434LysfsTer7
ENST00000638452.2:c.1003_1009del ENSP00000492349.2:p.Asp335LysfsTer7
ENST00000638504.1:n.986_992del
ENST00000638568.2:c.1003_1009del ENSP00000491158.2:p.Asp335LysfsTer7
ENST00000639899.1:n.1819_1825del
ENST00000640655.2:c.1003_1009del ENSP00000491596.2:p.Asp335LysfsTer7
ENST00000651160.1:c.1300_1306del ENSP00000498829.1:p.Asp434LysfsTer7
ENST00000651541.1:c.1003_1009del ENSP00000498795.1:p.Asp335LysfsTer7
ENST00000651658.1:n.1727_1733del
ENST00000651723.1:c.*1383_*1389del ENSP00000498237.1:n.*1383_*1389del
ENST00000652016.1:c.1300_1306del ENSP00000498267.1:p.Asp434LysfsTer7
ENST00000652485.1:c.1300_1306del ENSP00000498973.1:p.Asp434LysfsTer7
ENST00000378823.7:c.1300_1306del ENSP00000368100.4:p.Asp434LysfsTer7
ENST00000423956.5:c.1300_1306del ENSP00000390971.1:p.Asp434LysfsTer7
ENST00000453394.5:c.1300_1306del ENSP00000400049.1:p.Asp434LysfsTer7
ENST00000533482.5:c.*926_*932del ENSP00000431225.1:n.*926_*932del
NM_005732.3:c.1300_1306del NP_005723.2:p.Asp434LysfsTer7
NM_005732.4:c.1300_1306del MANE Select NP_005723.2:p.Asp434LysfsTer7