Linked Data
gnomAD v4:
6-31270416-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270419del , CM000668.2:g.31270419del | GRCh38 |
| NC_000006.11:g.31238196del , CM000668.1:g.31238196del | GRCh37 |
| NC_000006.10:g.31346175del | NCBI36 |
| NG_029422.2:g.6715del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.688del MANE Select | ENSP00000365402.5:p.Leu230TrpfsTer10 | |
| ENST00000376228.9:c.688del | ENSP00000365402.5:p.Leu230TrpfsTer10 | |
| ENST00000376237.8:c.*275del | ENSP00000365412.4:n.*275del | |
| ENST00000383329.7:c.688del | ENSP00000372819.3:p.Leu230TrpfsTer10 | |
| ENST00000415537.1:c.664+22del | ||
| ENST00000470363.5:n.6del | ||
| ENST00000487245.5:n.1047del | ||
| ENST00000495835.1:n.877del | ||
| NM_002117.5:c.688del | NP_002108.4:p.Leu230TrpfsTer10 | |
| NM_002117.6:c.688del MANE Select | NP_002108.4:p.Leu230TrpfsTer10 |