Linked Data
gnomAD v4:
14-24259076-TGTGGTGGTCACGCCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24259078_24259092del , CM000676.2:g.24259078_24259092del | GRCh38 |
| NC_000014.8:g.24728284_24728298del , CM000676.1:g.24728284_24728298del | GRCh37 |
| NC_000014.7:g.23798124_23798138del | NCBI36 |
| NG_007150.1:g.9076_9090del | |
| NG_007150.2:g.9076_9090del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206765.11:c.1143_1157del MANE Select | ENSP00000206765.6:p.Gly382_Thr386del | |
| ENST00000206765.10:c.1143_1157del | ENSP00000206765.6:p.Gly382_Thr386del | |
| ENST00000544573.5:c.-28-703_-28-689del | ENSP00000439446.1:n.-28-703_-28-689del | |
| ENST00000559136.1:c.216_230del | ENSP00000453337.1:p.Gly73_Thr77del | |
| NM_000359.2:c.1143_1157del | NP_000350.1:p.Gly382_Thr386del | |
| NM_000359.3:c.1143_1157del MANE Select | NP_000350.1:p.Gly382_Thr386del |