Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120739341del , CM000674.2:g.120739341del | GRCh38 |
| NC_000012.11:g.121177144del , CM000674.1:g.121177144del | GRCh37 |
| NC_000012.10:g.119661527del | NCBI36 |
| NG_007991.1:g.18574del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242592.9:c.1132del MANE Select | ENSP00000242592.4:p.Ala378GlnfsTer24 | |
| ENST00000242592.8:c.1132del | ENSP00000242592.4:p.Ala378GlnfsTer24 | |
| ENST00000411593.2:c.1120del | ENSP00000401045.2:p.Ala374GlnfsTer24 | |
| NM_000017.3:c.1132del | NP_000008.1:p.Ala378GlnfsTer24 | |
| NM_001302554.1:c.1120del | NP_001289483.1:p.Ala374GlnfsTer24 | |
| NM_000017.4:c.1132del MANE Select | NP_000008.1:p.Ala378GlnfsTer24 | |
| NM_001302554.2:c.1120del | NP_001289483.1:p.Ala374GlnfsTer24 |