gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269990_31269998del , CM000668.2:g.31269990_31269998del | GRCh38 |
| NC_000006.11:g.31237767_31237775del , CM000668.1:g.31237767_31237775del | GRCh37 |
| NC_000006.10:g.31345746_31345754del | NCBI36 |
| NG_029422.2:g.7135_7143del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.984_992del MANE Select | ENSP00000365402.5:p.Thr329_Met331del | |
| ENST00000376228.9:c.984_992del | ENSP00000365402.5:p.Thr329_Met331del | |
| ENST00000376237.8:c.*571_*579del | ENSP00000365412.4:n.*571_*579del | |
| ENST00000383329.7:c.984_992del | ENSP00000372819.3:p.Thr329_Met331del | |
| ENST00000470363.5:n.302_310del | ||
| ENST00000487245.5:n.1343_1351del | ||
| NM_002117.5:c.984_992del | NP_002108.4:p.Thr329_Met331del | |
| NM_002117.6:c.984_992del MANE Select | NP_002108.4:p.Thr329_Met331del |