Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43958515_43958516del , CM000685.2:g.43958515_43958516del | GRCh38 |
| NC_000023.10:g.43817761_43817762del , CM000685.1:g.43817761_43817762del | GRCh37 |
| NC_000023.9:g.43702705_43702706del | NCBI36 |
| NG_009832.1:g.20161_20162del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642620.1:c.131_132del (NDP) MANE Select | ENSP00000495972.1:p.Tyr44CysfsTer12 | |
| ENST00000647044.1:c.131_132del (NDP) | ENSP00000495811.1:p.Tyr44CysfsTer12 | |
| ENST00000378062.5:c.131_132del (NDP) | ENSP00000367301.5:p.Tyr44CysfsTer12 | |
| ENST00000470584.1:n.218+203_218+204del (NDP) | ||
| NM_000266.3:c.131_132del (NDP) | NP_000257.1:p.Tyr44CysfsTer12 | |
| NR_046631.1:n.467-2270_467-2269del (NDP-AS1) | ||
| NM_000266.4:c.131_132del (NDP) MANE Select | NP_000257.1:p.Tyr44CysfsTer12 |