Linked Data
gnomAD v4:
17-56595031-CTTTTTTTTTTTTTTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56595043_56595057del , CM000679.2:g.56595043_56595057del | GRCh38 |
| NC_000017.10:g.54672404_54672418del , CM000679.1:g.54672404_54672418del | GRCh37 |
| NC_000017.9:g.52027403_52027417del | NCBI36 |
| NG_011958.1:g.6345_6359del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332822.6:c.*121_*135del MANE Select | ENSP00000328181.4:n.*121_*135del | |
| ENST00000332822.4:c.*121_*135del | ENSP00000328181.4:n.*121_*135del | |
| NM_005450.4:c.*121_*135del | NP_005441.1:n.*121_*135del | |
| NM_005450.6:c.*121_*135del MANE Select | NP_005441.1:n.*121_*135del |