Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.[215671031C>T;215675519del] , CM000663.2:g.[215671031C>T;215675519del] | GRCh38 |
| NC_000001.10:g.[215844373C>T;215848861del] , CM000663.1:g.[215844373C>T;215848861del] | GRCh37 |
| NC_000001.9:g.[213910996C>T;213915484del] | NCBI36 |
| NG_009497.1:g.[752880del;757366G>A] | |
| NG_009497.2:g.[752932del;757418G>A] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.[12394del;14074G>A] MANE Select | ENSP00000305941.3:p.Leu4132TrpfsTer35 | |
| ENST00000674083.1:c.[12394del;14074G>A] | ENSP00000501296.1:p.Leu4132TrpfsTer35 | |
| ENST00000307340.7:c.[12394del;14074G>A] | ENSP00000305941.3:p.Leu4132TrpfsTer35 | |
| NM_206933.2:c.[12394del;14074G>A] | NP_996816.2:p.Leu4132TrpfsTer35 | |
| NM_206933.3:c.[12394del;14074G>A] | NP_996816.2:p.Leu4132TrpfsTer35 | |
| NM_206933.4:c.[12394del;14074G>A] MANE Select | NP_996816.3:p.Leu4132TrpfsTer35 |