Linked Data
gnomAD v4:
6-31270056-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270056_31270057insC , CM000668.2:g.31270056_31270057insC | GRCh38 |
| NC_000006.11:g.31237833_31237834insC , CM000668.1:g.31237833_31237834insC | GRCh37 |
| NC_000006.10:g.31345812_31345813insC | NCBI36 |
| NG_029422.2:g.7075_7076insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.924_925insG MANE Select | ENSP00000365402.5:p.Met309AspfsTer26 | |
| ENST00000376228.9:c.924_925insG | ENSP00000365402.5:p.Met309AspfsTer26 | |
| ENST00000376237.8:c.*511_*512insG | ENSP00000365412.4:n.*511_*512insG | |
| ENST00000383329.7:c.924_925insG | ENSP00000372819.3:p.Met309AspfsTer26 | |
| ENST00000470363.5:n.242_243insG | ||
| ENST00000487245.5:n.1283_1284insG | ||
| NM_002117.5:c.924_925insG | NP_002108.4:p.Met309AspfsTer26 | |
| NM_002117.6:c.924_925insG MANE Select | NP_002108.4:p.Met309AspfsTer26 |