Linked Data
gnomAD v4:
17-4631476-T-TGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4631477_4631478dup , CM000679.2:g.4631477_4631478dup | GRCh38 |
| NC_000017.10:g.4534772_4534773dup , CM000679.1:g.4534772_4534773dup | GRCh37 |
| NC_000017.9:g.4481521_4481522dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293761.8:c.*122_*123dup MANE Select | ENSP00000293761.3:n.*122_*123dup | |
| ENST00000293761.7:c.*122_*123dup | ENSP00000293761.3:n.*122_*123dup | |
| ENST00000570836.5:c.*122_*123dup | ENSP00000458832.1:n.*122_*123dup | |
| ENST00000574640.1:c.*122_*123dup | ENSP00000460483.1:n.*122_*123dup | |
| NM_001140.3:c.*122_*123dup | NP_001131.3:n.*122_*123dup | |
| NM_001140.4:c.*122_*123dup | NP_001131.3:n.*122_*123dup | |
| NM_001140.5:c.*122_*123dup MANE Select | NP_001131.3:n.*122_*123dup |