Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215867258_215867259del , CM000663.2:g.215867258_215867259del | GRCh38 |
| NC_000001.10:g.216040600_216040601del , CM000663.1:g.216040600_216040601del | GRCh37 |
| NC_000001.9:g.214107223_214107224del | NCBI36 |
| NG_009497.1:g.561139_561140del | |
| NG_009497.2:g.561191_561192del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.8682-88_8682-87del MANE Select | ENSP00000305941.3:n.8682-88_8682-87del | |
| ENST00000674083.1:c.8682-88_8682-87del | ENSP00000501296.1:n.8682-88_8682-87del | |
| ENST00000307340.7:c.8682-88_8682-87del | ENSP00000305941.3:n.8682-88_8682-87del | |
| NM_206933.2:c.8682-88_8682-87del | NP_996816.2:n.8682-88_8682-87del | |
| NM_206933.3:c.8682-88_8682-87del | NP_996816.2:n.8682-88_8682-87del | |
| NM_206933.4:c.8682-88_8682-87del MANE Select | NP_996816.3:n.8682-88_8682-87del |