Canonical Allele Identifier: CA16611953
Gene: RAD50 HGNC NCBI

Linked Data

ClinVar Variation Id: 408373
dbSNP Id: rs1060501954

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132589638_132589639del , CM000667.2:g.132589638_132589639del GRCh38
NC_000005.9:g.131925330_131925331del , CM000667.1:g.131925330_131925331del GRCh37
NC_000005.8:g.131953229_131953230del NCBI36
NG_021151.1:g.37715_37716del
NG_021151.2:g.37662_37663del

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.1253_1254del MANE Select ENSP00000368100.4:p.Phe418CysfsTer13
ENST00000638452.2:c.956_957del ENSP00000492349.2:p.Phe319CysfsTer13
ENST00000638504.1:n.939_940del
ENST00000638568.2:c.956_957del ENSP00000491158.2:p.Phe319CysfsTer13
ENST00000639899.1:n.1772_1773del
ENST00000640655.2:c.956_957del ENSP00000491596.2:p.Phe319CysfsTer13
ENST00000651160.1:c.1253_1254del ENSP00000498829.1:p.Phe418CysfsTer13
ENST00000651541.1:c.956_957del ENSP00000498795.1:p.Phe319CysfsTer13
ENST00000651658.1:n.1680_1681del
ENST00000651723.1:c.*1336_*1337del ENSP00000498237.1:n.*1336_*1337del
ENST00000652016.1:c.1253_1254del ENSP00000498267.1:p.Phe418CysfsTer13
ENST00000652485.1:c.1253_1254del ENSP00000498973.1:p.Phe418CysfsTer13
ENST00000378823.7:c.1253_1254del ENSP00000368100.4:p.Phe418CysfsTer13
ENST00000423956.5:c.1253_1254del ENSP00000390971.1:p.Phe418CysfsTer13
ENST00000453394.5:c.1253_1254del ENSP00000400049.1:p.Phe418CysfsTer13
ENST00000533482.5:c.*879_*880del ENSP00000431225.1:n.*879_*880del
NM_005732.3:c.1253_1254del NP_005723.2:p.Phe418CysfsTer13
NM_005732.4:c.1253_1254del MANE Select NP_005723.2:p.Phe418CysfsTer13