Canonical Allele Identifier: CA2975229980
Community Standard Title: NM_000448.3(RAG1):c.1235_1237dup (p.Arg412_Glu413insGly)
Gene: RAG1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.36574539_36574541dup , CM000673.2:g.36574539_36574541dup GRCh38
NC_000011.9:g.36596089_36596091dup , CM000673.1:g.36596089_36596091dup GRCh37
NC_000011.8:g.36552665_36552667dup NCBI36
NG_007528.1:g.11527_11529dup , LRG_98:g.11527_11529dup

Transcript Alleles

HGVS Amino-acid Change
NM_000448.3:c.1235_1237dup MANE Select NP_000439.2:p.Arg412_Glu413insGly
ENST00000299440.6:c.1235_1237dup MANE Select ENSP00000299440.5:p.Arg412_Glu413insGly
NM_000448.2:c.1235_1237dup , LRG_98t1:c.1235_1237dup NP_000439.1:p.Arg412_Glu413insGly
NM_001377277.1:c.1235_1237dup NP_001364206.1:p.Arg412_Glu413insGly
NM_001377278.1:c.1235_1237dup NP_001364207.1:p.Arg412_Glu413insGly
NM_001377279.1:c.1235_1237dup NP_001364208.1:p.Arg412_Glu413insGly
NM_001377280.1:c.1235_1237dup NP_001364209.1:p.Arg412_Glu413insGly
ENST00000299440.5:c.1235_1237dup ENSP00000299440.5:p.Arg412_Glu413insGly
ENST00000534663.1:c.1235_1237dup ENSP00000434610.1:p.Arg412_Glu413insGly
ENST00000697713.1:c.1235_1237dup ENSP00000513411.1:p.Arg412_Glu413insGly
ENST00000697714.1:c.1235_1237dup ENSP00000513412.1:p.Arg412_Glu413insGly
ENST00000697715.1:c.1235_1237dup ENSP00000513413.1:p.Arg412_Glu413insGly
XM_005253041.3:c.1235_1237dup XP_005253098.1:p.Arg412_Glu413insGly
XM_005253041.4:c.1235_1237dup XP_005253098.1:p.Arg412_Glu413insGly
XM_011520250.1:c.1235_1237dup XP_011518552.1:p.Arg412_Glu413insGly
XM_011520250.2:c.1235_1237dup XP_011518552.1:p.Arg412_Glu413insGly
XM_011520251.1:c.1235_1237dup XP_011518553.1:p.Arg412_Glu413insGly
Search 100 bp 5'
Search 100 bp 3'