Canonical Allele Identifier: CA2695213735

Gene: RAG1 RAG2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.36576083_36576161del , CM000673.2:g.36576083_36576161del	GRCh38
NC_000011.9:g.36597633_36597711del , CM000673.1:g.36597633_36597711del	GRCh37
NC_000011.8:g.36554209_36554287del	NCBI36
NG_007528.1:g.13071_13149del , LRG_98:g.13071_13149del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697713.1:c.2779_2857del (RAG1)	ENSP00000513411.1:p.Phe927MetfsTer25
ENST00000697714.1:c.2779_2857del (RAG1)	ENSP00000513412.1:p.Phe927MetfsTer25
ENST00000697715.1:c.2779_2857del (RAG1)	ENSP00000513413.1:p.Phe927MetfsTer25
ENST00000299440.6:c.2779_2857del (RAG1) MANE Select	ENSP00000299440.5:p.Phe927MetfsTer25
ENST00000299440.5:c.2779_2857del (RAG1)	ENSP00000299440.5:p.Phe927MetfsTer25
ENST00000524423.1:n.132-189_132-111del (RAG2)
ENST00000534663.1:c.2779_2789+68del (RAG1)
NM_000448.2:c.2779_2857del , LRG_98t1:c.2779_2857del (RAG1)	NP_000439.1:p.Phe927MetfsTer25
XM_005253041.3:c.2779_2857del (RAG1)	XP_005253098.1:p.Phe927MetfsTer25
XM_011520250.1:c.2779_2857del (RAG1)	XP_011518552.1:p.Phe927MetfsTer25
XM_011520251.1:c.2779_2857del (RAG1)	XP_011518553.1:p.Phe927MetfsTer25
XM_005253041.4:c.2779_2857del (RAG1)	XP_005253098.1:p.Phe927MetfsTer25
XM_011520250.2:c.2779_2857del (RAG1)	XP_011518552.1:p.Phe927MetfsTer25
NM_000448.3:c.2779_2857del (RAG1) MANE Select	NP_000439.2:p.Phe927MetfsTer25
NM_001377277.1:c.2779_2857del (RAG1)	NP_001364206.1:p.Phe927MetfsTer25
NM_001377278.1:c.2779_2857del (RAG1)	NP_001364207.1:p.Phe927MetfsTer25
NM_001377279.1:c.2779_2857del (RAG1)	NP_001364208.1:p.Phe927MetfsTer25
NM_001377280.1:c.2779_2857del (RAG1)	NP_001364209.1:p.Phe927MetfsTer25