Canonical Allele Identifier: CA5950294

Gene: RAG1 RAG2

Linked Data

• dbSNP Id: rs760394954
• ExAC: 11:36597448 CTG / C
• gnomAD v2: 11-36597448-CTG-C
• MyVariant Identifiers: chr11:g.36597449_36597450del (hg19) ; chr11:g.36575900_36575901del (hg38) ; chr11:g.36575899_36575900del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.36575901_36575902del , CM000673.2:g.36575901_36575902del	GRCh38
NC_000011.9:g.36597451_36597452del , CM000673.1:g.36597451_36597452del	GRCh37
NC_000011.8:g.36554027_36554028del	NCBI36
NG_007528.1:g.12889_12890del , LRG_98:g.12889_12890del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697713.1:c.2597_2598del (RAG1)	ENSP00000513411.1:p.Val866GlyfsTer5
ENST00000697714.1:c.2597_2598del (RAG1)	ENSP00000513412.1:p.Val866GlyfsTer5
ENST00000697715.1:c.2597_2598del (RAG1)	ENSP00000513413.1:p.Val866GlyfsTer5
ENST00000299440.6:c.2597_2598del (RAG1) MANE Select	ENSP00000299440.5:p.Val866GlyfsTer5
ENST00000299440.5:c.2597_2598del (RAG1)	ENSP00000299440.5:p.Val866GlyfsTer5
ENST00000524423.1:n.203_204del (RAG2)
ENST00000534663.1:c.2597_2598del (RAG1)	ENSP00000434610.1:p.Val866GlyfsTer5
NM_000448.2:c.2597_2598del , LRG_98t1:c.2597_2598del (RAG1)	NP_000439.1:p.Val866GlyfsTer5
XM_005253041.3:c.2597_2598del (RAG1)	XP_005253098.1:p.Val866GlyfsTer5
XM_011520250.1:c.2597_2598del (RAG1)	XP_011518552.1:p.Val866GlyfsTer5
XM_011520251.1:c.2597_2598del (RAG1)	XP_011518553.1:p.Val866GlyfsTer5
XM_005253041.4:c.2597_2598del (RAG1)	XP_005253098.1:p.Val866GlyfsTer5
XM_011520250.2:c.2597_2598del (RAG1)	XP_011518552.1:p.Val866GlyfsTer5
NM_000448.3:c.2597_2598del (RAG1) MANE Select	NP_000439.2:p.Val866GlyfsTer5
NM_001377277.1:c.2597_2598del (RAG1)	NP_001364206.1:p.Val866GlyfsTer5
NM_001377278.1:c.2597_2598del (RAG1)	NP_001364207.1:p.Val866GlyfsTer5
NM_001377279.1:c.2597_2598del (RAG1)	NP_001364208.1:p.Val866GlyfsTer5
NM_001377280.1:c.2597_2598del (RAG1)	NP_001364209.1:p.Val866GlyfsTer5