Linked Data
gnomAD v4:
12-91055959-GTTA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.91055962_91055964del , CM000674.2:g.91055962_91055964del | GRCh38 |
| NC_000012.11:g.91449739_91449741del , CM000674.1:g.91449739_91449741del | GRCh37 |
| NC_000012.10:g.89973870_89973872del | NCBI36 |
| NG_021223.1:g.7393_7395del , LRG_538:g.7393_7395del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266719.4:c.320_322del MANE Select | ENSP00000266719.3:p.Ile107del | |
| ENST00000266719.3:c.320_322del | ENSP00000266719.3:p.Ile107del | |
| NM_007035.3:c.320_322del , LRG_538t1:c.320_322del | NP_008966.1:p.Ile107del | |
| XM_011537781.1:c.320_322del | XP_011536083.1:p.Ile107del | |
| NM_007035.4:c.320_322del MANE Select | NP_008966.1:p.Ile107del |