Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3225632_3225633del , CM000668.2:g.3225632_3225633del | GRCh38 |
| NC_000006.11:g.3225866_3225867del , CM000668.1:g.3225866_3225867del | GRCh37 |
| NC_000006.10:g.3170865_3170866del | NCBI36 |
| NG_016715.1:g.7102_7103del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259818.8:c.456_457del MANE Select | ENSP00000259818.6:p.Ile152MetfsTer? | |
| ENST00000680070.1:n.1386_1387del | ||
| ENST00000681707.1:n.1283_1284del | ||
| ENST00000681757.1:n.761_762del | ||
| ENST00000259818.7:c.456_457del | ENSP00000259818.6:p.Ile152MetfsTer? | |
| ENST00000473006.1:n.573_574del | ||
| NM_178012.4:c.456_457del | NP_821080.1:p.Ile152MetfsTer? | |
| XM_011514571.1:c.240_241del | XP_011512873.1:p.Ile80MetfsTer? | |
| NM_178012.5:c.456_457del MANE Select | NP_821080.1:p.Ile152MetfsTer? |