Linked Data
gnomAD v4:
6-31270009-AAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270010_31270011del , CM000668.2:g.31270010_31270011del | GRCh38 |
| NC_000006.11:g.31237787_31237788del , CM000668.1:g.31237787_31237788del | GRCh37 |
| NC_000006.10:g.31345766_31345767del | NCBI36 |
| NG_029422.2:g.7121_7122del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.970_971del MANE Select | ENSP00000365402.5:p.Leu324TrpfsTer10 | |
| ENST00000376228.9:c.970_971del | ENSP00000365402.5:p.Leu324TrpfsTer10 | |
| ENST00000376237.8:c.*557_*558del | ENSP00000365412.4:n.*557_*558del | |
| ENST00000383329.7:c.970_971del | ENSP00000372819.3:p.Leu324TrpfsTer10 | |
| ENST00000470363.5:n.288_289del | ||
| ENST00000487245.5:n.1329_1330del | ||
| NM_002117.5:c.970_971del | NP_002108.4:p.Leu324TrpfsTer10 | |
| NM_002117.6:c.970_971del MANE Select | NP_002108.4:p.Leu324TrpfsTer10 |