Linked Data
gnomAD v4:
17-56595030-A-AATTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56595030_56595031insATTTTTT , CM000679.2:g.56595030_56595031insATTTTTT | GRCh38 |
| NC_000017.10:g.54672391_54672392insATTTTTT , CM000679.1:g.54672391_54672392insATTTTTT | GRCh37 |
| NC_000017.9:g.52027390_52027391insATTTTTT | NCBI36 |
| NG_011958.1:g.6332_6333insATTTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332822.6:c.*108_*109insATTTTTT MANE Select | ENSP00000328181.4:n.*108_*109insATTTTTT | |
| ENST00000332822.4:c.*108_*109insATTTTTT | ENSP00000328181.4:n.*108_*109insATTTTTT | |
| NM_005450.4:c.*108_*109insATTTTTT | NP_005441.1:n.*108_*109insATTTTTT | |
| NM_005450.6:c.*108_*109insATTTTTT MANE Select | NP_005441.1:n.*108_*109insATTTTTT |