Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17112639del , CM000684.2:g.17112639del | GRCh38 |
| NC_000022.10:g.17593529del , CM000684.1:g.17593529del | GRCh37 |
| NC_000022.9:g.15973529del | NCBI36 |
| NG_028257.1:g.32679del , LRG_355:g.32679del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014339.7:c.*2819del MANE Select | NP_055154.3:n.*2819del |
| ENST00000319363.11:c.*2819del MANE Select | ENSP00000320936.6:n.*2819del |
| NM_001289905.1:c.*2819del | NP_001276834.1:n.*2819del |
| NM_001289905.2:c.*2819del | NP_001276834.1:n.*2819del |
| NM_014339.6:c.*2819del , LRG_355t1:c.*2819del | NP_055154.3:n.*2819del |
| ENST00000319363.10:c.*2819del | ENSP00000320936.6:n.*2819del |
| ENST00000612619.1:c.*2819del | ENSP00000479970.1:n.*2819del |