Canonical Allele Identifier: CA2695213738

Gene: RAG1

Linked Data

• ClinVar Variation Id: 2940333
• ClinVar RCV Id: RCV003797691

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.36575062_36575064delinsGAATC , CM000673.2:g.36575062_36575064delinsGAATC	GRCh38
NC_000011.9:g.36596612_36596614delinsGAATC , CM000673.1:g.36596612_36596614delinsGAATC	GRCh37
NC_000011.8:g.36553188_36553190delinsGAATC	NCBI36
NG_007528.1:g.12050_12052delinsGAATC , LRG_98:g.12050_12052delinsGAATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697713.1:c.1758_1760delinsGAATC	ENSP00000513411.1:p.Asp587AsnfsTer5
ENST00000697714.1:c.1758_1760delinsGAATC	ENSP00000513412.1:p.Asp587AsnfsTer5
ENST00000697715.1:c.1758_1760delinsGAATC	ENSP00000513413.1:p.Asp587AsnfsTer5
ENST00000299440.6:c.1758_1760delinsGAATC MANE Select	ENSP00000299440.5:p.Asp587AsnfsTer5
ENST00000299440.5:c.1758_1760delinsGAATC	ENSP00000299440.5:p.Asp587AsnfsTer5
ENST00000534663.1:c.1758_1760delinsGAATC	ENSP00000434610.1:p.Asp587AsnfsTer5
NM_000448.2:c.1758_1760delinsGAATC , LRG_98t1:c.1758_1760delinsGAATC	NP_000439.1:p.Asp587AsnfsTer5
XM_005253041.3:c.1758_1760delinsGAATC	XP_005253098.1:p.Asp587AsnfsTer5
XM_011520250.1:c.1758_1760delinsGAATC	XP_011518552.1:p.Asp587AsnfsTer5
XM_011520251.1:c.1758_1760delinsGAATC	XP_011518553.1:p.Asp587AsnfsTer5
XM_005253041.4:c.1758_1760delinsGAATC	XP_005253098.1:p.Asp587AsnfsTer5
XM_011520250.2:c.1758_1760delinsGAATC	XP_011518552.1:p.Asp587AsnfsTer5
NM_000448.3:c.1758_1760delinsGAATC MANE Select	NP_000439.2:p.Asp587AsnfsTer5
NM_001377277.1:c.1758_1760delinsGAATC	NP_001364206.1:p.Asp587AsnfsTer5
NM_001377278.1:c.1758_1760delinsGAATC	NP_001364207.1:p.Asp587AsnfsTer5
NM_001377279.1:c.1758_1760delinsGAATC	NP_001364208.1:p.Asp587AsnfsTer5
NM_001377280.1:c.1758_1760delinsGAATC	NP_001364209.1:p.Asp587AsnfsTer5