Linked Data
dbSNP Id:
rs1412316254
gnomAD v2:
6-32609968-A-AGGAGAG
MyVariant Identifiers:
chr6:g.32609968_32609969insGGAGAG (hg19)
chr6:g.32642191_32642192insGGAGAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32642191_32642192insGGAGAG , CM000668.2:g.32642191_32642192insGGAGAG | GRCh38 |
| NC_000006.11:g.32609968_32609969insGGAGAG , CM000668.1:g.32609968_32609969insGGAGAG | GRCh37 |
| NC_000006.10:g.32717946_32717947insGGAGAG | NCBI36 |
| NG_032876.1:g.9786_9787insGGAGAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343139.11:c.551_552insGGAGAG MANE Select | ENSP00000339398.5:p.Asp184delinsGluGluSer... | |
| ENST00000343139.9:c.551_552insGGAGAG | ENSP00000339398.5:p.Asp184delinsGluGluSer... | |
| ENST00000374949.2:c.551_552insGGAGAG | ENSP00000364087.2:p.Asp184delinsGluGluSer... | |
| ENST00000395363.5:c.551_552insGGAGAG | ENSP00000378767.1:p.Asp184delinsGluGluSer... | |
| ENST00000460633.1:n.579_580insGGAGAG | ||
| ENST00000482745.5:c.*1383_*1384insGGAGAG | ENSP00000436546.1:n.*1383_*1384insGGAGAG | |
| ENST00000496318.5:c.551_552insGGAGAG | ENSP00000437302.1:p.Asp184delinsGluGluSer... | |
| NM_002122.3:c.551_552insGGAGAG | NP_002113.2:p.Asp184delinsGluGluSer | |
| XM_006715079.2:c.551_552insGGAGAG | XP_006715142.1:p.Asp184delinsGluGluSer | |
| XM_006715079.4:c.551_552insGGAGAG | XP_006715142.1:p.Asp184delinsGluGluSer | |
| XR_001744085.1:n.86+396_86+397insCTCTCC | ||
| NM_002122.5:c.551_552insGGAGAG MANE Select | NP_002113.2:p.Asp184delinsGluGluSer |