Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49955577del , CM000674.2:g.49955577del | GRCh38 |
| NC_000012.11:g.50349360del , CM000674.1:g.50349360del | GRCh37 |
| NC_000012.10:g.48635627del | NCBI36 |
| NG_008913.1:g.9837del , LRG_717:g.9837del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000486.6:c.785del (AQP2) MANE Select | NP_000477.1:p.Pro262ArgfsTer? |
| ENST00000199280.4:c.785del (AQP2) MANE Select | ENSP00000199280.3:p.Pro262ArgfsTer? |
| NM_000486.5:c.785del , LRG_717t1:c.785del (AQP2) | NP_000477.1:p.Pro262ArgfsTer? |
| NR_110590.1:n.257-1228del (AQP5-AS1) | |
| NR_110591.1:n.118-3488del (AQP5-AS1) | |
| ENST00000199280.3:c.785del (AQP2) | ENSP00000199280.3:p.Pro262ArgfsTer? |
| ENST00000551526.5:c.631+154del (AQP2) | ENSP00000447148.1:n.631+154del |