Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.104855756_104855777del , CM000664.2:g.104855756_104855777del | GRCh38 |
| NC_000002.11:g.105472214_105472235del , CM000664.1:g.105472214_105472235del | GRCh37 |
| NC_000002.10:g.104838646_104838667del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006236.3:c.246_267del MANE Select | NP_006227.1:p.Met82IlefsTer3 |
| ENST00000361360.4:c.246_267del MANE Select | ENSP00000355001.2:p.Met82IlefsTer3 |
| NM_006236.1:c.246_267del | NP_006227.1:p.Met82IlefsTer3 |
| NM_006236.2:c.246_267del | NP_006227.1:p.Met82IlefsTer3 |
| ENST00000361360.2:c.246_267del | ENSP00000355001.2:p.Met82IlefsTer3 |
| ENST00000674056.1:c.246_267del | ENSP00000501036.1:p.Met82IlefsTer3 |