Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140114633_140114654del , CM000667.2:g.140114633_140114654del | GRCh38 |
| NC_000005.9:g.139494218_139494239del , CM000667.1:g.139494218_139494239del | GRCh37 |
| NC_000005.8:g.139474402_139474423del | NCBI36 |
| NG_041813.1:g.5511_5532del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005859.5:c.452_473del MANE Select | NP_005850.1:p.Glu151ValfsTer? |
| ENST00000331327.5:c.452_473del MANE Select | ENSP00000332706.3:p.Glu151ValfsTer? |
| NM_005859.4:c.452_473del | NP_005850.1:p.Glu151ValfsTer? |
| ENST00000331327.4:c.452_473del | ENSP00000332706.3:p.Glu151ValfsTer? |
| ENST00000651386.1:c.452_473del | ENSP00000499133.1:p.Glu151ValfsTer? |