Linked Data
gnomAD v4:
2-21010437-GCAGT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21010442_21010445del , CM000664.2:g.21010442_21010445del | GRCh38 |
| NC_000002.11:g.21233314_21233317del , CM000664.1:g.21233314_21233317del | GRCh37 |
| NC_000002.10:g.21086819_21086822del | NCBI36 |
| NG_011793.1:g.38633_38636del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.6427_6430del MANE Select | ENSP00000233242.1:p.Thr2143LeufsTer17 | |
| ENST00000616098.4:c.6427_6430del | ENSP00000477990.1:p.Thr2143LeufsTer17 | |
| NM_000384.2:c.6427_6430del | NP_000375.2:p.Thr2143LeufsTer17 | |
| XM_011532809.1:c.5869+292_5869+295del | XP_011531111.1:n.5869+292_5869+295del | |
| NM_000384.3:c.6427_6430del MANE Select | NP_000375.3:p.Thr2143LeufsTer17 |