Canonical Allele Identifier: CA2573146310

Gene: RAG1 RAG2

Linked Data

• ClinVar Variation Id: 1458103
• ClinVar RCV Id: RCV001956200
• dbSNP Id: rs2133297611

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.36575779del , CM000673.2:g.36575779del	GRCh38
NC_000011.9:g.36597329del , CM000673.1:g.36597329del	GRCh37
NC_000011.8:g.36553905del	NCBI36
NG_007528.1:g.12767del , LRG_98:g.12767del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697713.1:c.2475del (RAG1)	ENSP00000513411.1:p.Glu827ArgfsTer18
ENST00000697714.1:c.2475del (RAG1)	ENSP00000513412.1:p.Glu827ArgfsTer18
ENST00000697715.1:c.2475del (RAG1)	ENSP00000513413.1:p.Glu827ArgfsTer18
ENST00000299440.6:c.2475del (RAG1) MANE Select	ENSP00000299440.5:p.Glu827ArgfsTer18
ENST00000299440.5:c.2475del (RAG1)	ENSP00000299440.5:p.Glu827ArgfsTer18
ENST00000524423.1:n.325del (RAG2)
ENST00000534663.1:c.2475del (RAG1)	ENSP00000434610.1:p.Glu827ArgfsTer18
NM_000448.2:c.2475del , LRG_98t1:c.2475del (RAG1)	NP_000439.1:p.Glu827ArgfsTer18
XM_005253041.3:c.2475del (RAG1)	XP_005253098.1:p.Glu827ArgfsTer18
XM_011520250.1:c.2475del (RAG1)	XP_011518552.1:p.Glu827ArgfsTer18
XM_011520251.1:c.2475del (RAG1)	XP_011518553.1:p.Glu827ArgfsTer18
XM_005253041.4:c.2475del (RAG1)	XP_005253098.1:p.Glu827ArgfsTer18
XM_011520250.2:c.2475del (RAG1)	XP_011518552.1:p.Glu827ArgfsTer18
NM_000448.3:c.2475del (RAG1) MANE Select	NP_000439.2:p.Glu827ArgfsTer18
NM_001377277.1:c.2475del (RAG1)	NP_001364206.1:p.Glu827ArgfsTer18
NM_001377278.1:c.2475del (RAG1)	NP_001364207.1:p.Glu827ArgfsTer18
NM_001377279.1:c.2475del (RAG1)	NP_001364208.1:p.Glu827ArgfsTer18
NM_001377280.1:c.2475del (RAG1)	NP_001364209.1:p.Glu827ArgfsTer18