Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.90915596_90915598del , CM000672.2:g.90915596_90915598del | GRCh38 |
| NC_000010.10:g.92675353_92675355del , CM000672.1:g.92675353_92675355del | GRCh37 |
| NC_000010.9:g.92665333_92665335del | NCBI36 |
| NG_023227.1:g.10679_10681del , LRG_379:g.10679_10681del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014391.3:c.795_797del MANE Select | NP_055206.2:p.Tyr265Ter |
| ENST00000371697.4:c.795_797del MANE Select | ENSP00000360762.3:p.Tyr265Ter |
| NM_014391.2:c.795_797del , LRG_379t1:c.795_797del | NP_055206.2:p.Tyr265Ter |
| ENST00000371697.3:c.795_797del | ENSP00000360762.3:p.Tyr265Ter |