Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215867232_215867233del , CM000663.2:g.215867232_215867233del | GRCh38 |
| NC_000001.10:g.216040574_216040575del , CM000663.1:g.216040574_216040575del | GRCh37 |
| NC_000001.9:g.214107197_214107198del | NCBI36 |
| NG_009497.1:g.561165_561166del | |
| NG_009497.2:g.561217_561218del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.8682-62_8682-61del MANE Select | ENSP00000305941.3:n.8682-62_8682-61del | |
| ENST00000674083.1:c.8682-62_8682-61del | ENSP00000501296.1:n.8682-62_8682-61del | |
| ENST00000307340.7:c.8682-62_8682-61del | ENSP00000305941.3:n.8682-62_8682-61del | |
| NM_206933.2:c.8682-62_8682-61del | NP_996816.2:n.8682-62_8682-61del | |
| NM_206933.3:c.8682-62_8682-61del | NP_996816.2:n.8682-62_8682-61del | |
| NM_206933.4:c.8682-62_8682-61del MANE Select | NP_996816.3:n.8682-62_8682-61del |