Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47332198del , CM000673.2:g.47332198del | GRCh38 |
| NC_000011.9:g.47353749del , CM000673.1:g.47353749del | GRCh37 |
| NC_000011.8:g.47310325del | NCBI36 |
| NG_007667.1:g.25506del , LRG_386:g.25506del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.3689del MANE Select | ENSP00000442795.1:p.Phe1230SerfsTer7 | |
| ENST00000256993.8:c.3689del | ENSP00000256993.5:p.Phe1230SerfsTer7 | |
| ENST00000399249.6:c.3689del | ENSP00000382193.2:p.Phe1230SerfsTer7 | |
| ENST00000545968.5:c.3689del | ENSP00000442795.1:p.Phe1230SerfsTer7 | |
| NM_000256.3:c.3689del , LRG_386t1:c.3689del MANE Select | NP_000247.2:p.Phe1230SerfsTer7 | |
| XM_011520117.1:c.3671del | XP_011518419.1:p.Phe1224SerfsTer7 | |
| XM_011520118.1:c.3608del | XP_011518420.1:p.Phe1203SerfsTer7 |