Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9890757_9890765del , CM000665.2:g.9890757_9890765del | GRCh38 |
| NC_000003.11:g.9932441_9932449del , CM000665.1:g.9932441_9932449del | GRCh37 |
| NC_000003.10:g.9907441_9907449del | NCBI36 |
| NG_041779.1:g.5171_5179del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032492.4:c.35_43del MANE Select | NP_115881.3:p.Thr12_Gly14del |
| ENST00000647897.1:c.35_43del MANE Select | ENSP00000496942.1:p.Thr12_Gly14del |
| NM_001363890.1:c.-234_-226del | NP_001350819.1:n.-234_-226del |
| NM_032492.3:c.35_43del | NP_115881.3:p.Thr12_Gly14del |
| ENST00000307768.4:c.35_43del | ENSP00000306106.4:p.Thr12_Gly14del |
| ENST00000489724.1:n.125_133del | |
| ENST00000489724.2:c.35_43del | ENSP00000497724.1:p.Thr12_Gly14del |
| ENST00000616966.2:c.35_43del | ENSP00000481606.1:p.Thr12_Gly14del |