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