Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215648610_215648611del , CM000663.2:g.215648610_215648611del | GRCh38 |
| NC_000001.10:g.215821952_215821953del , CM000663.1:g.215821952_215821953del | GRCh37 |
| NC_000001.9:g.213888575_213888576del | NCBI36 |
| NG_009497.1:g.779789_779790del | |
| NG_009497.2:g.779841_779842del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_206933.4:c.14502_14503del MANE Select | NP_996816.3:p.Pro4835ThrfsTer28 |
| ENST00000307340.8:c.14502_14503del MANE Select | ENSP00000305941.3:p.Pro4835ThrfsTer28 |
| NM_206933.2:c.14502_14503del | NP_996816.2:p.Pro4835ThrfsTer28 |
| NM_206933.3:c.14502_14503del | NP_996816.2:p.Pro4835ThrfsTer28 |
| ENST00000307340.7:c.14502_14503del | ENSP00000305941.3:p.Pro4835ThrfsTer28 |
| ENST00000674083.1:c.14502_14503del | ENSP00000501296.1:p.Pro4835ThrfsTer28 |