Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215779920_215779921del , CM000663.2:g.215779920_215779921del | GRCh38 |
| NC_000001.10:g.215953262_215953263del , CM000663.1:g.215953262_215953263del | GRCh37 |
| NC_000001.9:g.214019885_214019886del | NCBI36 |
| NG_009497.1:g.648477_648478del | |
| NG_009497.2:g.648529_648530del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.10862_10863del MANE Select | ENSP00000305941.3:p.Lys3621ArgfsTer15 | |
| ENST00000674083.1:c.10862_10863del | ENSP00000501296.1:p.Lys3621ArgfsTer15 | |
| ENST00000307340.7:c.10862_10863del | ENSP00000305941.3:p.Lys3621ArgfsTer15 | |
| NM_206933.2:c.10862_10863del | NP_996816.2:p.Lys3621ArgfsTer15 | |
| NM_206933.3:c.10862_10863del | NP_996816.2:p.Lys3621ArgfsTer15 | |
| NM_206933.4:c.10862_10863del MANE Select | NP_996816.3:p.Lys3621ArgfsTer15 |