Linked Data
gnomAD v4:
2-189050621-CCAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189050625_189050627del , CM000664.2:g.189050625_189050627del | GRCh38 |
| NC_000002.11:g.189915351_189915353del , CM000664.1:g.189915351_189915353del | GRCh37 |
| NC_000002.10:g.189623596_189623598del | NCBI36 |
| NG_011799.1:g.134256_134258del | |
| NG_011799.2:g.134256_134258del | |
| NG_011799.3:g.179678_179680del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.2984_2986del MANE Select | ENSP00000364000.3:p.Val995del | |
| ENST00000374866.7:c.2984_2986del | ENSP00000364000.3:p.Val995del | |
| ENST00000618828.1:c.1823_1825del | ENSP00000482184.1:p.Val608del | |
| NM_000393.3:c.2984_2986del | NP_000384.2:p.Val995del | |
| XM_011510573.1:c.2846_2848del | XP_011508875.1:p.Val949del | |
| NM_000393.4:c.2984_2986del | NP_000384.2:p.Val995del | |
| XM_011510573.3:c.2846_2848del | XP_011508875.1:p.Val949del | |
| NM_000393.5:c.2984_2986del MANE Select | NP_000384.2:p.Val995del |