Canonical Allele Identifier: CA163457
Community Standard Title: NM_031229.4(RBCK1):c.121_122del (p.Leu41GlufsTer7)
Gene: RBCK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.409979_409980del , CM000682.2:g.409979_409980del GRCh38
NC_000020.10:g.390623_390624del , CM000682.1:g.390623_390624del GRCh37
NC_000020.9:g.338623_338624del NCBI36
NG_033233.1:g.6915_6916del

Transcript Alleles

HGVS Amino-acid Change
NM_031229.4:c.121_122del MANE Select NP_112506.2:p.Leu41GlufsTer7
ENST00000356286.10:c.121_122del MANE Select ENSP00000348632.6:p.Leu41GlufsTer7
NM_001323956.1:c.-229_-228del NP_001310885.1:n.-229_-228del
NM_001323956.2:c.-229_-228del NP_001310885.1:n.-229_-228del
NM_001323958.1:c.-183+1200_-183+1201del NP_001310887.1:n.-183+1200_-183+1201del
NM_001323958.2:c.-183+1200_-183+1201del NP_001310887.1:n.-183+1200_-183+1201del
NM_001323960.1:c.121_122del NP_001310889.1:p.Leu41GlufsTer7
NM_001323960.2:c.121_122del NP_001310889.1:p.Leu41GlufsTer7
NM_006462.4:c.41+1200_41+1201del NP_006453.1:n.41+1200_41+1201del
NM_006462.5:c.41+1200_41+1201del NP_006453.1:n.41+1200_41+1201del
NM_006462.6:c.41+1200_41+1201del NP_006453.1:n.41+1200_41+1201del
NM_031229.2:c.121_122del NP_112506.2:p.Leu41GlufsTer7
NM_031229.3:c.121_122del NP_112506.2:p.Leu41GlufsTer7
NR_136659.1:n.829_830del
NR_136659.2:n.580_581del
ENST00000353660.7:c.41+1200_41+1201del ENSP00000254960.5:n.41+1200_41+1201del
ENST00000356286.9:c.121_122del ENSP00000348632.5:p.Leu41GlufsTer7
ENST00000382181.2:c.-183+1200_-183+1201del ENSP00000371616.2:n.-183+1200_-183+1201del
ENST00000382214.7:c.121_122del ENSP00000371649.3:p.Leu41GlufsTer7
ENST00000400245.3:n.625_626del
ENST00000400247.3:c.42-433_42-432del ENSP00000383106.3:n.42-433_42-432del
ENST00000411647.5:c.121_122del ENSP00000415080.1:p.Leu41GlufsTer7
ENST00000414880.1:c.96_97del
ENST00000415942.5:c.121_122del ENSP00000405288.1:p.Leu41GlufsTer7
ENST00000441733.5:c.118_119del ENSP00000387799.1:p.Leu40GlufsTer7
ENST00000475269.5:c.121_122del ENSP00000417173.1:p.Leu41GlufsTer7
ENST00000640614.1:c.-229_-228del ENSP00000491402.1:n.-229_-228del
ENST00000697804.1:c.121_122del ENSP00000513444.1:p.Leu41GlufsTer7
ENST00000697805.1:c.172_173del ENSP00000513446.1:p.Leu58GlufsTer7
XM_005260645.1:c.172_173del XP_005260702.1:p.Leu58GlufsTer7
XM_005260645.2:c.172_173del XP_005260702.1:p.Leu58GlufsTer7
XM_011529137.1:c.172_173del XP_011527439.1:p.Leu58GlufsTer7
XM_011529137.2:c.172_173del XP_011527439.1:p.Leu58GlufsTer7
XM_011529138.1:c.121_122del XP_011527440.1:p.Leu41GlufsTer7
XM_011529139.1:c.172_173del XP_011527441.1:p.Leu58GlufsTer7
XM_011529139.3:c.172_173del XP_011527441.1:p.Leu58GlufsTer7
XM_011529140.1:c.172_173del XP_011527442.1:p.Leu58GlufsTer7
XM_011529140.2:c.172_173del XP_011527442.1:p.Leu58GlufsTer7
XM_017027594.2:c.-229_-228del XP_016883083.1:n.-229_-228del
XM_017027595.1:c.-352_-351del XP_016883084.1:n.-352_-351del
XR_001754130.2:n.631_632del
XR_001754131.1:n.580_581del
XR_430267.1:n.580_581del
XR_937029.1:n.625_626del
XR_937029.3:n.631_632del