Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215648674_215648702del , CM000663.2:g.215648674_215648702del | GRCh38 |
| NC_000001.10:g.215822016_215822044del , CM000663.1:g.215822016_215822044del | GRCh37 |
| NC_000001.9:g.213888639_213888667del | NCBI36 |
| NG_009497.1:g.779696_779724del | |
| NG_009497.2:g.779748_779776del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_206933.4:c.14409_14437del MANE Select | NP_996816.3:p.Ile4803MetfsTer9 |
| ENST00000307340.8:c.14409_14437del MANE Select | ENSP00000305941.3:p.Ile4803MetfsTer9 |
| NM_206933.2:c.14409_14437del | NP_996816.2:p.Ile4803MetfsTer9 |
| NM_206933.3:c.14409_14437del | NP_996816.2:p.Ile4803MetfsTer9 |
| ENST00000307340.7:c.14409_14437del | ENSP00000305941.3:p.Ile4803MetfsTer9 |
| ENST00000674083.1:c.14409_14437del | ENSP00000501296.1:p.Ile4803MetfsTer9 |