Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2284880_2284882del , CM000678.2:g.2284880_2284882del | GRCh38 |
| NC_000016.9:g.2334881_2334883del , CM000678.1:g.2334881_2334883del | GRCh37 |
| NC_000016.8:g.2274882_2274884del | NCBI36 |
| NG_011790.1:g.60874_60876del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001089.3:c.3609_3611del MANE Select | NP_001080.2:p.Phe1203del |
| ENST00000301732.10:c.3609_3611del MANE Select | ENSP00000301732.5:p.Phe1203del |
| NM_001089.2:c.3609_3611del | NP_001080.2:p.Phe1203del |
| ENST00000301732.9:c.3609_3611del | ENSP00000301732.5:p.Phe1203del |
| ENST00000382381.7:c.3435_3437del | ENSP00000371818.3:p.Phe1145del |