Linked Data
dbSNP Id:
rs768890479
gnomAD v2:
6-31237802-A-AGGACAG
MyVariant Identifiers:
chr6:g.31237802_31237803insGGACAG (hg19)
chr6:g.31270025_31270026insGGACAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270025_31270026insGGACAG , CM000668.2:g.31270025_31270026insGGACAG | GRCh38 |
| NC_000006.11:g.31237802_31237803insGGACAG , CM000668.1:g.31237802_31237803insGGACAG | GRCh37 |
| NC_000006.10:g.31345781_31345782insGGACAG | NCBI36 |
| NG_029422.2:g.7106_7107insCTGTCC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.955_956insCTGTCC MANE Select | ENSP00000365402.5:p.Val319delinsAlaValLeu... | |
| ENST00000376228.9:c.955_956insCTGTCC | ENSP00000365402.5:p.Val319delinsAlaValLeu... | |
| ENST00000376237.8:c.*542_*543insCTGTCC | ENSP00000365412.4:n.*542_*543insCTGTCC | |
| ENST00000383329.7:c.955_956insCTGTCC | ENSP00000372819.3:p.Val319delinsAlaValLeu... | |
| ENST00000470363.5:n.273_274insCTGTCC | ||
| ENST00000487245.5:n.1314_1315insCTGTCC | ||
| NM_002117.5:c.955_956insCTGTCC | NP_002108.4:p.Val319delinsAlaValLeu | |
| NM_002117.6:c.955_956insCTGTCC MANE Select | NP_002108.4:p.Val319delinsAlaValLeu |