Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46016356_46016359del , CM000682.2:g.46016356_46016359del | GRCh38 |
| NC_000020.10:g.44644995_44644998del , CM000682.1:g.44644995_44644998del | GRCh37 |
| NC_000020.9:g.44078402_44078405del | NCBI36 |
| NG_011468.1:g.12449_12452del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372330.3:c.2112_2115del (MMP9) MANE Select | ENSP00000361405.3:p.Cys704TrpfsTer? | |
| NM_004994.2:c.2112_2115del (MMP9) | NP_004985.2:p.Cys704TrpfsTer? | |
| NR_147699.1:n.669-1571_669-1568del (SLC12A5-AS1) | ||
| NM_004994.3:c.2112_2115del (MMP9) MANE Select | NP_004985.2:p.Cys704TrpfsTer? |