Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46016348_46016349del , CM000682.2:g.46016348_46016349del | GRCh38 |
| NC_000020.10:g.44644987_44644988del , CM000682.1:g.44644987_44644988del | GRCh37 |
| NC_000020.9:g.44078394_44078395del | NCBI36 |
| NG_011468.1:g.12441_12442del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372330.3:c.2104_2105del (MMP9) MANE Select | ENSP00000361405.3:p.Leu702AlafsTer4 | |
| NM_004994.2:c.2104_2105del (MMP9) | NP_004985.2:p.Leu702AlafsTer4 | |
| NR_147699.1:n.669-1561_669-1560del (SLC12A5-AS1) | ||
| NM_004994.3:c.2104_2105del (MMP9) MANE Select | NP_004985.2:p.Leu702AlafsTer4 |