Linked Data
gnomAD v4:
17-41584067-C-CTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41584068_41584069insTTT , CM000679.2:g.41584068_41584069insTTT | GRCh38 |
| NC_000017.10:g.39740320_39740321insTTT , CM000679.1:g.39740320_39740321insTTT | GRCh37 |
| NC_000017.9:g.36993846_36993847insTTT | NCBI36 |
| NG_008624.1:g.7828_7829insAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.766-147_766-146insAAA MANE Select | ENSP00000167586.6:n.766-147_766-146insAAA | |
| ENST00000167586.6:c.766-147_766-146insAAA | ENSP00000167586.6:n.766-147_766-146insAAA | |
| ENST00000476662.1:n.216-147_216-146insAAA | ||
| NM_000526.4:c.766-147_766-146insAAA | NP_000517.2:n.766-147_766-146insAAA | |
| NM_000526.5:c.766-147_766-146insAAA MANE Select | NP_000517.3:n.766-147_766-146insAAA |