Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101346593del , CM000685.2:g.101346593del | GRCh38 |
| NC_000023.10:g.100601581del , CM000685.1:g.100601581del | GRCh37 |
| NC_000023.9:g.100488237del | NCBI36 |
| NG_011734.1:g.7378del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372902.4:c.201del MANE Select | ENSP00000361993.3:p.Glu68SerfsTer11 | |
| ENST00000644112.2:c.*1795del | ENSP00000494385.1:n.*1795del | |
| ENST00000645279.1:c.*395del | ENSP00000494239.1:n.*395del | |
| ENST00000647480.1:n.718del | ||
| ENST00000372902.3:c.201del | ENSP00000361993.3:p.Glu68SerfsTer11 | |
| NM_004085.3:c.201del | NP_004076.1:p.Glu68SerfsTer11 | |
| NM_004085.4:c.201del MANE Select | NP_004076.1:p.Glu68SerfsTer11 | |
| NM_001145951.2:c.*1795del | NP_001139423.1:n.*1795del |