Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43958544del , CM000685.2:g.43958544del | GRCh38 |
| NC_000023.10:g.43817790del , CM000685.1:g.43817790del | GRCh37 |
| NC_000023.9:g.43702734del | NCBI36 |
| NG_009832.1:g.20133del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642620.1:c.103del (NDP) MANE Select | ENSP00000495972.1:p.Asp35ThrfsTer6 | |
| ENST00000647044.1:c.103del (NDP) | ENSP00000495811.1:p.Asp35ThrfsTer6 | |
| ENST00000378062.5:c.103del (NDP) | ENSP00000367301.5:p.Asp35ThrfsTer6 | |
| ENST00000470584.1:n.218+175del (NDP) | ||
| NM_000266.3:c.103del (NDP) | NP_000257.1:p.Asp35ThrfsTer6 | |
| NR_046631.1:n.467-2241del (NDP-AS1) | ||
| NM_000266.4:c.103del (NDP) MANE Select | NP_000257.1:p.Asp35ThrfsTer6 |