Canonical Allele Identifier: CA2695213719
Gene: RAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.36575322_36575329del , CM000673.2:g.36575322_36575329del GRCh38
NC_000011.9:g.36596872_36596879del , CM000673.1:g.36596872_36596879del GRCh37
NC_000011.8:g.36553448_36553455del NCBI36
NG_007528.1:g.12310_12317del , LRG_98:g.12310_12317del

Transcript Alleles

HGVS Amino-acid Change
ENST00000697713.1:c.2018_2025del ENSP00000513411.1:p.Ala673GlufsTer6
ENST00000697714.1:c.2018_2025del ENSP00000513412.1:p.Ala673GlufsTer6
ENST00000697715.1:c.2018_2025del ENSP00000513413.1:p.Ala673GlufsTer6
ENST00000299440.6:c.2018_2025del MANE Select ENSP00000299440.5:p.Ala673GlufsTer6
ENST00000299440.5:c.2018_2025del ENSP00000299440.5:p.Ala673GlufsTer6
ENST00000534663.1:c.2018_2025del ENSP00000434610.1:p.Ala673GlufsTer6
NM_000448.2:c.2018_2025del , LRG_98t1:c.2018_2025del NP_000439.1:p.Ala673GlufsTer6
XM_005253041.3:c.2018_2025del XP_005253098.1:p.Ala673GlufsTer6
XM_011520250.1:c.2018_2025del XP_011518552.1:p.Ala673GlufsTer6
XM_011520251.1:c.2018_2025del XP_011518553.1:p.Ala673GlufsTer6
XM_005253041.4:c.2018_2025del XP_005253098.1:p.Ala673GlufsTer6
XM_011520250.2:c.2018_2025del XP_011518552.1:p.Ala673GlufsTer6
NM_000448.3:c.2018_2025del MANE Select NP_000439.2:p.Ala673GlufsTer6
NM_001377277.1:c.2018_2025del NP_001364206.1:p.Ala673GlufsTer6
NM_001377278.1:c.2018_2025del NP_001364207.1:p.Ala673GlufsTer6
NM_001377279.1:c.2018_2025del NP_001364208.1:p.Ala673GlufsTer6
NM_001377280.1:c.2018_2025del NP_001364209.1:p.Ala673GlufsTer6