Linked Data
gnomAD v4:
12-91055512-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.91055513_91055514del , CM000674.2:g.91055513_91055514del | GRCh38 |
| NC_000012.11:g.91449290_91449291del , CM000674.1:g.91449290_91449291del | GRCh37 |
| NC_000012.10:g.89973421_89973422del | NCBI36 |
| NG_021223.1:g.7841_7842del , LRG_538:g.7841_7842del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266719.4:c.768_769del MANE Select | ENSP00000266719.3:p.Gly258IlefsTer2 | |
| ENST00000266719.3:c.768_769del | ENSP00000266719.3:p.Gly258IlefsTer2 | |
| NM_007035.3:c.768_769del , LRG_538t1:c.768_769del | NP_008966.1:p.Gly258IlefsTer2 | |
| XM_011537781.1:c.768_769del | XP_011536083.1:p.Gly258IlefsTer2 | |
| NM_007035.4:c.768_769del MANE Select | NP_008966.1:p.Gly258IlefsTer2 |