Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2278306_2278308del , CM000678.2:g.2278306_2278308del | GRCh38 |
| NC_000016.9:g.2328307_2328309del , CM000678.1:g.2328307_2328309del | GRCh37 |
| NC_000016.8:g.2268308_2268310del | NCBI36 |
| NG_011790.1:g.67447_67449del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.4706_4708del MANE Select | ENSP00000301732.5:p.Ile1569del | |
| ENST00000301732.9:c.4706_4708del | ENSP00000301732.5:p.Ile1569del | |
| ENST00000382381.7:c.4532_4534del | ENSP00000371818.3:p.Ile1511del | |
| ENST00000566200.1:n.1227_1229del | ||
| NM_001089.2:c.4706_4708del | NP_001080.2:p.Ile1569del | |
| NM_001089.3:c.4706_4708del MANE Select | NP_001080.2:p.Ile1569del |