Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659107del , CM000685.2:g.136659107del | GRCh38 |
| NC_000023.10:g.135741266del , CM000685.1:g.135741266del | GRCh37 |
| NC_000023.9:g.135568932del | NCBI36 |
| NG_007280.1:g.15931del , LRG_141:g.15931del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695724.1:c.*96del | ENSP00000512122.1:n.*96del | |
| ENST00000695725.1:c.*33del | ENSP00000512123.1:n.*33del | |
| ENST00000695726.1:n.2446del | ||
| ENST00000695729.1:n.3281del | ||
| ENST00000370629.7:c.478del MANE Select | ENSP00000359663.2:p.Gln160SerfsTer2 | |
| ENST00000370628.2:c.415del | ENSP00000359662.2:p.Gln139SerfsTer2 | |
| ENST00000370629.6:c.478del | ENSP00000359663.2:p.Gln160SerfsTer2 | |
| NM_000074.2:c.478del , LRG_141t1:c.478del | NP_000065.1:p.Gln160SerfsTer2 | |
| NM_000074.3:c.478del MANE Select | NP_000065.1:p.Gln160SerfsTer2 |