Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.117693108del , CM000668.2:g.117693108del | GRCh38 |
| NC_000006.11:g.118014271del , CM000668.1:g.118014271del | GRCh37 |
| NC_000006.10:g.118120964del | NCBI36 |
| NG_054913.1:g.22655del | |
| NG_054913.2:g.22655del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_138459.5:c.482del MANE Select | NP_612468.1:p.Gly161AlafsTer2 |
| ENST00000368494.4:c.482del MANE Select | ENSP00000357480.3:p.Gly161AlafsTer2 |
| NM_138459.3:c.482del | NP_612468.1:p.Gly161AlafsTer2 |
| NM_138459.4:c.482del | NP_612468.1:p.Gly161AlafsTer2 |
| ENST00000368494.3:c.482del | ENSP00000357480.3:p.Gly161AlafsTer2 |