Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9893083_9893084del , CM000665.2:g.9893083_9893084del | GRCh38 |
| NC_000003.11:g.9934767_9934768del , CM000665.1:g.9934767_9934768del | GRCh37 |
| NC_000003.10:g.9909767_9909768del | NCBI36 |
| NG_041779.1:g.7497_7498del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000489724.2:c.*211_*212del | ENSP00000497724.1:n.*211_*212del | |
| ENST00000647897.1:c.258_259del MANE Select | ENSP00000496942.1:p.Leu87GlyfsTer11 | |
| ENST00000307768.4:c.258_259del | ENSP00000306106.4:p.Leu87GlyfsTer11 | |
| ENST00000616966.2:c.258_259del | ENSP00000481606.1:p.Leu87GlyfsTer11 | |
| NM_032492.3:c.258_259del | NP_115881.3:p.Leu87GlyfsTer11 | |
| NM_001363890.1:c.96_97del | NP_001350819.1:p.Leu33GlyfsTer11 | |
| NM_032492.4:c.258_259del MANE Select | NP_115881.3:p.Leu87GlyfsTer11 |