Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215867186_215867188del , CM000663.2:g.215867186_215867188del | GRCh38 |
| NC_000001.10:g.216040528_216040530del , CM000663.1:g.216040528_216040530del | GRCh37 |
| NC_000001.9:g.214107151_214107153del | NCBI36 |
| NG_009497.1:g.561211_561213del | |
| NG_009497.2:g.561263_561265del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.8682-16_8682-14del MANE Select | ENSP00000305941.3:n.8682-16_8682-14del | |
| ENST00000674083.1:c.8682-16_8682-14del | ENSP00000501296.1:n.8682-16_8682-14del | |
| ENST00000307340.7:c.8682-16_8682-14del | ENSP00000305941.3:n.8682-16_8682-14del | |
| NM_206933.2:c.8682-16_8682-14del | NP_996816.2:n.8682-16_8682-14del | |
| NM_206933.3:c.8682-16_8682-14del | NP_996816.2:n.8682-16_8682-14del | |
| NM_206933.4:c.8682-16_8682-14del MANE Select | NP_996816.3:n.8682-16_8682-14del |