Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.41741092del , CM000683.2:g.41741092del | GRCh38 |
| NC_000021.8:g.43161252del , CM000683.1:g.43161252del | GRCh37 |
| NC_000021.7:g.42034321del | NCBI36 |
| NG_032113.1:g.31001del | |
| NG_032113.2:g.31001del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332512.8:c.2104del MANE Select | ENSP00000332454.3:p.Leu702Ter | |
| ENST00000332512.7:c.2104del | ENSP00000332454.3:p.Leu702Ter | |
| ENST00000352483.3:c.2248del | ENSP00000330161.2:p.Leu750Ter | |
| NM_020639.2:c.2104del | NP_065690.2:p.Leu702Ter | |
| NM_020639.3:c.2104del MANE Select | NP_065690.2:p.Leu702Ter |