Canonical Allele Identifier: CA598865148
Community Standard Title: NM_000448.3(RAG1):c.1139del (p.Lys380ArgfsTer23)
Gene: RAG1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.36574443del , CM000673.2:g.36574443del GRCh38
NC_000011.9:g.36595993del , CM000673.1:g.36595993del GRCh37
NC_000011.8:g.36552569del NCBI36
NG_007528.1:g.11431del , LRG_98:g.11431del

Transcript Alleles

HGVS Amino-acid Change
NM_000448.3:c.1139del MANE Select NP_000439.2:p.Lys380ArgfsTer23
ENST00000299440.6:c.1139del MANE Select ENSP00000299440.5:p.Lys380ArgfsTer23
NM_000448.2:c.1139del , LRG_98t1:c.1139del NP_000439.1:p.Lys380ArgfsTer23
NM_001377277.1:c.1139del NP_001364206.1:p.Lys380ArgfsTer23
NM_001377278.1:c.1139del NP_001364207.1:p.Lys380ArgfsTer23
NM_001377279.1:c.1139del NP_001364208.1:p.Lys380ArgfsTer23
NM_001377280.1:c.1139del NP_001364209.1:p.Lys380ArgfsTer23
ENST00000299440.5:c.1139del ENSP00000299440.5:p.Lys380ArgfsTer23
ENST00000534663.1:c.1139del ENSP00000434610.1:p.Lys380ArgfsTer23
ENST00000697713.1:c.1139del ENSP00000513411.1:p.Lys380ArgfsTer23
ENST00000697714.1:c.1139del ENSP00000513412.1:p.Lys380ArgfsTer23
ENST00000697715.1:c.1139del ENSP00000513413.1:p.Lys380ArgfsTer23
XM_005253041.3:c.1139del XP_005253098.1:p.Lys380ArgfsTer23
XM_005253041.4:c.1139del XP_005253098.1:p.Lys380ArgfsTer23
XM_011520250.1:c.1139del XP_011518552.1:p.Lys380ArgfsTer23
XM_011520250.2:c.1139del XP_011518552.1:p.Lys380ArgfsTer23
XM_011520251.1:c.1139del XP_011518553.1:p.Lys380ArgfsTer23
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