Linked Data
dbSNP Id:
rs1564988973
gnomAD v2:
11-36596083-G-GGCTGAGGGA
gnomAD v4:
11-36574533-G-GGCTGAGGGA
MyVariant Identifiers:
chr11:g.36596083_36596084insGCTGAGGGA (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.36574537_36574545dup , CM000673.2:g.36574537_36574545dup | GRCh38 |
| NC_000011.9:g.36596087_36596095dup , CM000673.1:g.36596087_36596095dup | GRCh37 |
| NC_000011.8:g.36552663_36552671dup | NCBI36 |
| NG_007528.1:g.11525_11533dup , LRG_98:g.11525_11533dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697713.1:c.1233_1241dup | ENSP00000513411.1:p.Leu414_Lys415insArgGluLeu | |
| ENST00000697714.1:c.1233_1241dup | ENSP00000513412.1:p.Leu414_Lys415insArgGluLeu | |
| ENST00000697715.1:c.1233_1241dup | ENSP00000513413.1:p.Leu414_Lys415insArgGluLeu | |
| ENST00000299440.6:c.1233_1241dup MANE Select | ENSP00000299440.5:p.Leu414_Lys415insArgGluLeu | |
| ENST00000299440.5:c.1233_1241dup | ENSP00000299440.5:p.Leu414_Lys415insArgGluLeu | |
| ENST00000534663.1:c.1233_1241dup | ENSP00000434610.1:p.Leu414_Lys415insArgGluLeu | |
| NM_000448.2:c.1233_1241dup , LRG_98t1:c.1233_1241dup | NP_000439.1:p.Leu414_Lys415insArgGluLeu | |
| XM_005253041.3:c.1233_1241dup | XP_005253098.1:p.Leu414_Lys415insArgGluLeu | |
| XM_011520250.1:c.1233_1241dup | XP_011518552.1:p.Leu414_Lys415insArgGluLeu | |
| XM_011520251.1:c.1233_1241dup | XP_011518553.1:p.Leu414_Lys415insArgGluLeu | |
| XM_005253041.4:c.1233_1241dup | XP_005253098.1:p.Leu414_Lys415insArgGluLeu | |
| XM_011520250.2:c.1233_1241dup | XP_011518552.1:p.Leu414_Lys415insArgGluLeu | |
| NM_000448.3:c.1233_1241dup MANE Select | NP_000439.2:p.Leu414_Lys415insArgGluLeu | |
| NM_001377277.1:c.1233_1241dup | NP_001364206.1:p.Leu414_Lys415insArgGluLeu | |
| NM_001377278.1:c.1233_1241dup | NP_001364207.1:p.Leu414_Lys415insArgGluLeu | |
| NM_001377279.1:c.1233_1241dup | NP_001364208.1:p.Leu414_Lys415insArgGluLeu | |
| NM_001377280.1:c.1233_1241dup | NP_001364209.1:p.Leu414_Lys415insArgGluLeu |