Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9890792_9890798del , CM000665.2:g.9890792_9890798del | GRCh38 |
| NC_000003.11:g.9932476_9932482del , CM000665.1:g.9932476_9932482del | GRCh37 |
| NC_000003.10:g.9907476_9907482del | NCBI36 |
| NG_041779.1:g.5206_5212del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000489724.2:c.70_76del | ENSP00000497724.1:p.Ala24ThrfsTer4 | |
| ENST00000647897.1:c.70_76del MANE Select | ENSP00000496942.1:p.Ala24ThrfsTer4 | |
| ENST00000307768.4:c.70_76del | ENSP00000306106.4:p.Ala24ThrfsTer4 | |
| ENST00000489724.1:n.160_166del | ||
| ENST00000616966.2:c.70_76del | ENSP00000481606.1:p.Ala24ThrfsTer4 | |
| NM_032492.3:c.70_76del | NP_115881.3:p.Ala24ThrfsTer4 | |
| NM_001363890.1:c.-199_-193del | NP_001350819.1:n.-199_-193del | |
| NM_032492.4:c.70_76del MANE Select | NP_115881.3:p.Ala24ThrfsTer4 |