Canonical Allele Identifier: CA598865164

Gene: RAG1

Linked Data

• dbSNP Id: rs1325457138
• gnomAD v2: 11-36596546-AGCTTTGGTGTCT-A
• MyVariant Identifiers: chr11:g.36596547_36596558del (hg19) ; chr11:g.36574997_36575008del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.36575003_36575014del , CM000673.2:g.36575003_36575014del	GRCh38
NC_000011.9:g.36596553_36596564del , CM000673.1:g.36596553_36596564del	GRCh37
NC_000011.8:g.36553129_36553140del	NCBI36
NG_007528.1:g.11991_12002del , LRG_98:g.11991_12002del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697713.1:c.1699_1710del	ENSP00000513411.1:p.Val567_Leu570del
ENST00000697714.1:c.1699_1710del	ENSP00000513412.1:p.Val567_Leu570del
ENST00000697715.1:c.1699_1710del	ENSP00000513413.1:p.Val567_Leu570del
ENST00000299440.6:c.1699_1710del MANE Select	ENSP00000299440.5:p.Val567_Leu570del
ENST00000299440.5:c.1699_1710del	ENSP00000299440.5:p.Val567_Leu570del
ENST00000534663.1:c.1699_1710del	ENSP00000434610.1:p.Val567_Leu570del
NM_000448.2:c.1699_1710del , LRG_98t1:c.1699_1710del	NP_000439.1:p.Val567_Leu570del
XM_005253041.3:c.1699_1710del	XP_005253098.1:p.Val567_Leu570del
XM_011520250.1:c.1699_1710del	XP_011518552.1:p.Val567_Leu570del
XM_011520251.1:c.1699_1710del	XP_011518553.1:p.Val567_Leu570del
XM_005253041.4:c.1699_1710del	XP_005253098.1:p.Val567_Leu570del
XM_011520250.2:c.1699_1710del	XP_011518552.1:p.Val567_Leu570del
NM_000448.3:c.1699_1710del MANE Select	NP_000439.2:p.Val567_Leu570del
NM_001377277.1:c.1699_1710del	NP_001364206.1:p.Val567_Leu570del
NM_001377278.1:c.1699_1710del	NP_001364207.1:p.Val567_Leu570del
NM_001377279.1:c.1699_1710del	NP_001364208.1:p.Val567_Leu570del
NM_001377280.1:c.1699_1710del	NP_001364209.1:p.Val567_Leu570del