Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86632813del , CM000670.2:g.86632813del | GRCh38 |
| NC_000008.10:g.87645041del , CM000670.1:g.87645041del | GRCh37 |
| NC_000008.9:g.87714157del | NCBI36 |
| NG_016980.1:g.115864del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320005.6:c.1260del MANE Select | ENSP00000316605.5:p.Ile420MetfsTer6 | |
| ENST00000681546.1:n.1080del | ||
| ENST00000681746.1:c.1260del | ENSP00000505959.1:p.Ile420MetfsTer6 | |
| ENST00000320005.5:c.1260del | ENSP00000316605.5:p.Ile420MetfsTer6 | |
| NM_019098.4:c.1260del | NP_061971.3:p.Ile420MetfsTer6 | |
| XM_011517138.1:c.846del | XP_011515440.1:p.Ile282MetfsTer6 | |
| XM_011517138.2:c.846del | XP_011515440.1:p.Ile282MetfsTer6 | |
| NM_019098.5:c.1260del MANE Select | NP_061971.3:p.Ile420MetfsTer6 |