Linked Data
gnomAD v4:
17-56595030-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56595030_56595031insT , CM000679.2:g.56595030_56595031insT | GRCh38 |
| NC_000017.10:g.54672391_54672392insT , CM000679.1:g.54672391_54672392insT | GRCh37 |
| NC_000017.9:g.52027390_52027391insT | NCBI36 |
| NG_011958.1:g.6332_6333insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332822.6:c.*108_*109insT MANE Select | ENSP00000328181.4:n.*108_*109insT | |
| ENST00000332822.4:c.*108_*109insT | ENSP00000328181.4:n.*108_*109insT | |
| NM_005450.4:c.*108_*109insT | NP_005441.1:n.*108_*109insT | |
| NM_005450.6:c.*108_*109insT MANE Select | NP_005441.1:n.*108_*109insT |