Linked Data
gnomAD v4:
17-70176058-A-AC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70176059dup , CM000679.2:g.70176059dup | GRCh38 |
| NC_000017.10:g.68172200dup , CM000679.1:g.68172200dup | GRCh37 |
| NC_000017.9:g.65683795dup | NCBI36 |
| NG_008798.1:g.11525dup , LRG_328:g.11525dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243457.4:c.1020dup MANE Select | ENSP00000243457.2:p.Tyr341LeufsTer17 | |
| ENST00000243457.3:c.1020dup | ENSP00000243457.2:p.Tyr341LeufsTer17 | |
| ENST00000535240.1:c.1020dup | ENSP00000441848.1:p.Tyr341LeufsTer17 | |
| NM_000891.2:c.1020dup , LRG_328t1:c.1020dup | NP_000882.1:p.Tyr341LeufsTer17 | |
| XM_011524779.1:c.1020dup | XP_011523081.1:p.Tyr341LeufsTer17 | |
| NM_000891.3:c.1020dup MANE Select | NP_000882.1:p.Tyr341LeufsTer17 |