Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.179130017del , CM000667.2:g.179130017del | GRCh38 |
| NC_000005.9:g.178557018del , CM000667.1:g.178557018del | GRCh37 |
| NC_000005.8:g.178489624del | NCBI36 |
| NG_023212.2:g.220312del | |
| NG_023212.3:g.220312del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698889.1:c.2372del | ENSP00000514008.1:p.Met791ArgfsTer? | |
| ENST00000251582.12:c.2372del MANE Select | ENSP00000251582.7:p.Met791ArgfsTer? | |
| ENST00000518335.3:c.2372del | ENSP00000489888.2:p.Met791ArgfsTer? | |
| ENST00000251582.11:c.2372del | ENSP00000251582.7:p.Met791ArgfsTer? | |
| NM_014244.4:c.2372del | NP_055059.2:p.Met791ArgfsTer? | |
| NM_014244.5:c.2372del MANE Select | NP_055059.2:p.Met791ArgfsTer? |