Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610738_1610740del , CM000668.2:g.1610738_1610740del | GRCh38 |
| NC_000006.11:g.1610973_1610975del , CM000668.1:g.1610973_1610975del | GRCh37 |
| NC_000006.10:g.1555972_1555974del | NCBI36 |
| NG_009368.1:g.5293_5295del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.293_295del MANE Select | ENSP00000493906.1:p.Lys98del | |
| ENST00000380874.3:c.293_295del | ENSP00000370256.2:p.Lys98del | |
| NM_001453.2:c.293_295del | NP_001444.2:p.Lys98del | |
| NM_001453.3:c.293_295del MANE Select | NP_001444.2:p.Lys98del |