Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43949960_43949963del , CM000685.2:g.43949960_43949963del | GRCh38 |
| NC_000023.10:g.43809206_43809209del , CM000685.1:g.43809206_43809209del | GRCh37 |
| NC_000023.9:g.43694150_43694153del | NCBI36 |
| NG_009832.1:g.28715_28718del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642620.1:c.240_243del (NDP) MANE Select | ENSP00000495972.1:p.Phe81AlafsTer22 | |
| ENST00000647044.1:c.240_243del (NDP) | ENSP00000495811.1:p.Phe81AlafsTer22 | |
| ENST00000378062.5:c.240_243del (NDP) | ENSP00000367301.5:p.Phe81AlafsTer22 | |
| ENST00000470584.1:n.284_287del (NDP) | ||
| NM_000266.3:c.240_243del (NDP) | NP_000257.1:p.Phe81AlafsTer22 | |
| NR_046631.1:n.229_232del (NDP-AS1) | ||
| NM_000266.4:c.240_243del (NDP) MANE Select | NP_000257.1:p.Phe81AlafsTer22 |