Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10641214del , CM000682.2:g.10641214del | GRCh38 |
| NC_000020.10:g.10621862del , CM000682.1:g.10621862del | GRCh37 |
| NC_000020.9:g.10569862del | NCBI36 |
| NG_007496.1:g.37834del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000254958.10:c.2948del MANE Select | ENSP00000254958.4:p.Leu983Ter | |
| ENST00000254958.9:c.2948del | ENSP00000254958.4:p.Leu983Ter | |
| ENST00000423891.6:n.2814del | ||
| ENST00000617357.1:n.64del | ||
| NM_000214.2:c.2948del | NP_000205.1:p.Leu983Ter | |
| NM_000214.3:c.2948del MANE Select | NP_000205.1:p.Leu983Ter |