Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43949886_43949894del , CM000685.2:g.43949886_43949894del | GRCh38 |
| NC_000023.10:g.43809132_43809140del , CM000685.1:g.43809132_43809140del | GRCh37 |
| NC_000023.9:g.43694076_43694084del | NCBI36 |
| NG_009832.1:g.28785_28793del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642620.1:c.310_318del (NDP) MANE Select | ENSP00000495972.1:p.Lys104_Leu106del | |
| ENST00000647044.1:c.310_318del (NDP) | ENSP00000495811.1:p.Lys104_Leu106del | |
| ENST00000378062.5:c.310_318del (NDP) | ENSP00000367301.5:p.Lys104_Leu106del | |
| ENST00000470584.1:n.354_362del (NDP) | ||
| NM_000266.3:c.310_318del (NDP) | NP_000257.1:p.Lys104_Leu106del | |
| NR_046631.1:n.155_163del (NDP-AS1) | ||
| NM_000266.4:c.310_318del (NDP) MANE Select | NP_000257.1:p.Lys104_Leu106del |