Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215867224_215867226del , CM000663.2:g.215867224_215867226del | GRCh38 |
| NC_000001.10:g.216040566_216040568del , CM000663.1:g.216040566_216040568del | GRCh37 |
| NC_000001.9:g.214107189_214107191del | NCBI36 |
| NG_009497.1:g.561171_561173del | |
| NG_009497.2:g.561223_561225del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.8682-56_8682-54del MANE Select | ENSP00000305941.3:n.8682-56_8682-54del | |
| ENST00000674083.1:c.8682-56_8682-54del | ENSP00000501296.1:n.8682-56_8682-54del | |
| ENST00000307340.7:c.8682-56_8682-54del | ENSP00000305941.3:n.8682-56_8682-54del | |
| NM_206933.2:c.8682-56_8682-54del | NP_996816.2:n.8682-56_8682-54del | |
| NM_206933.3:c.8682-56_8682-54del | NP_996816.2:n.8682-56_8682-54del | |
| NM_206933.4:c.8682-56_8682-54del MANE Select | NP_996816.3:n.8682-56_8682-54del |