Linked Data
gnomAD v4:
6-31271243-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271246del , CM000668.2:g.31271246del | GRCh38 |
| NC_000006.11:g.31239023del , CM000668.1:g.31239023del | GRCh37 |
| NC_000006.10:g.31347002del | NCBI36 |
| NG_029422.2:g.5888del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.448del MANE Select | ENSP00000365402.5:p.Leu150Ter | |
| ENST00000376228.9:c.448del | ENSP00000365402.5:p.Leu150Ter | |
| ENST00000376237.8:c.*35del | ENSP00000365412.4:n.*35del | |
| ENST00000383329.7:c.448del | ENSP00000372819.3:p.Leu150Ter | |
| ENST00000415537.1:c.446del | ||
| ENST00000484378.1:n.717del | ||
| ENST00000487245.5:n.807del | ||
| ENST00000495835.1:n.637del | ||
| NM_002117.5:c.448del | NP_002108.4:p.Leu150Ter | |
| NM_002117.6:c.448del MANE Select | NP_002108.4:p.Leu150Ter |