Canonical Allele Identifier: CA2740093700
Gene: RAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2922077
ClinVar RCV Id: RCV003785291

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.36575322_36575995delinsGCG , CM000673.2:g.36575322_36575995delinsGCG GRCh38
NC_000011.9:g.36596872_36597545delinsGCG , CM000673.1:g.36596872_36597545delinsGCG GRCh37
NC_000011.8:g.36553448_36554121delinsGCG NCBI36
NG_007528.1:g.12310_12983delinsGCG , LRG_98:g.12310_12983delinsGCG

Transcript Alleles

HGVS Amino-acid change
ENST00000697713.1:c.2018_2691delinsGCG ENSP00000513411.1:p.Ala673GlyfsTer7
ENST00000697714.1:c.2018_2691delinsGCG ENSP00000513412.1:p.Ala673GlyfsTer7
ENST00000697715.1:c.2018_2691delinsGCG ENSP00000513413.1:p.Ala673GlyfsTer7
ENST00000299440.6:c.2018_2691delinsGCG MANE Select ENSP00000299440.5:p.Ala673GlyfsTer7
ENST00000299440.5:c.2018_2691delinsGCG ENSP00000299440.5:p.Ala673GlyfsTer7
ENST00000534663.1:c.2018_2691delinsGCG ENSP00000434610.1:p.Ala673GlyfsTer7
NM_000448.2:c.2018_2691delinsGCG , LRG_98t1:c.2018_2691delinsGCG NP_000439.1:p.Ala673GlyfsTer7
XM_005253041.3:c.2018_2691delinsGCG XP_005253098.1:p.Ala673GlyfsTer7
XM_011520250.1:c.2018_2691delinsGCG XP_011518552.1:p.Ala673GlyfsTer7
XM_011520251.1:c.2018_2691delinsGCG XP_011518553.1:p.Ala673GlyfsTer7
XM_005253041.4:c.2018_2691delinsGCG XP_005253098.1:p.Ala673GlyfsTer7
XM_011520250.2:c.2018_2691delinsGCG XP_011518552.1:p.Ala673GlyfsTer7
NM_000448.3:c.2018_2691delinsGCG MANE Select NP_000439.2:p.Ala673GlyfsTer7
NM_001377277.1:c.2018_2691delinsGCG NP_001364206.1:p.Ala673GlyfsTer7
NM_001377278.1:c.2018_2691delinsGCG NP_001364207.1:p.Ala673GlyfsTer7
NM_001377279.1:c.2018_2691delinsGCG NP_001364208.1:p.Ala673GlyfsTer7
NM_001377280.1:c.2018_2691delinsGCG NP_001364209.1:p.Ala673GlyfsTer7