Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140114822_140114826dup , CM000667.2:g.140114822_140114826dup | GRCh38 |
| NC_000005.9:g.139494407_139494411dup , CM000667.1:g.139494407_139494411dup | GRCh37 |
| NC_000005.8:g.139474591_139474595dup | NCBI36 |
| NG_041813.1:g.5700_5704dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331327.5:c.641_645dup MANE Select | ENSP00000332706.3:p.Ala216SerfsTer11 | |
| ENST00000651386.1:c.641_645dup | ENSP00000499133.1:p.Ala216SerfsTer11 | |
| ENST00000331327.4:c.641_645dup | ENSP00000332706.3:p.Ala216SerfsTer11 | |
| NM_005859.4:c.641_645dup | NP_005850.1:p.Ala216SerfsTer11 | |
| NM_005859.5:c.641_645dup MANE Select | NP_005850.1:p.Ala216SerfsTer11 |