Canonical Allele Identifier: CA163761
Gene: RAD50 HGNC NCBI

Linked Data

dbSNP Id: rs587781327

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132589655_132589656del , CM000667.2:g.132589655_132589656del GRCh38
NC_000005.9:g.131925347_131925348del , CM000667.1:g.131925347_131925348del GRCh37
NC_000005.8:g.131953246_131953247del NCBI36
NG_021151.1:g.37732_37733del
NG_021151.2:g.37679_37680del

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.1270_1271del MANE Select ENSP00000368100.4:p.Leu424GlufsTer7
ENST00000638452.2:c.973_974del ENSP00000492349.2:p.Leu325GlufsTer7
ENST00000638504.1:n.956_957del
ENST00000638568.2:c.973_974del ENSP00000491158.2:p.Leu325GlufsTer7
ENST00000639899.1:n.1789_1790del
ENST00000640655.2:c.973_974del ENSP00000491596.2:p.Leu325GlufsTer7
ENST00000651160.1:c.1270_1271del ENSP00000498829.1:p.Leu424GlufsTer7
ENST00000651541.1:c.973_974del ENSP00000498795.1:p.Leu325GlufsTer7
ENST00000651658.1:n.1697_1698del
ENST00000651723.1:c.*1353_*1354del ENSP00000498237.1:n.*1353_*1354del
ENST00000652016.1:c.1270_1271del ENSP00000498267.1:p.Leu424GlufsTer7
ENST00000652485.1:c.1270_1271del ENSP00000498973.1:p.Leu424GlufsTer7
ENST00000378823.7:c.1270_1271del ENSP00000368100.4:p.Leu424GlufsTer7
ENST00000423956.5:c.1270_1271del ENSP00000390971.1:p.Leu424GlufsTer7
ENST00000453394.5:c.1270_1271del ENSP00000400049.1:p.Leu424GlufsTer7
ENST00000533482.5:c.*896_*897del ENSP00000431225.1:n.*896_*897del
NM_005732.3:c.1270_1271del NP_005723.2:p.Leu424GlufsTer7
NM_005732.4:c.1270_1271del MANE Select NP_005723.2:p.Leu424GlufsTer7