Linked Data
gnomAD v4:
17-41612123-CCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612129_41612130del , CM000679.2:g.41612129_41612130del | GRCh38 |
| NC_000017.10:g.39768381_39768382del , CM000679.1:g.39768381_39768382del | GRCh37 |
| NC_000017.9:g.37021907_37021908del | NCBI36 |
| NG_008301.1:g.5703_5704del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.531+33_531+34del MANE Select | ENSP00000301653.3:n.531+33_531+34del | |
| ENST00000301653.8:c.531+33_531+34del | ENSP00000301653.3:n.531+33_531+34del | |
| ENST00000588319.1:n.641_642del | ||
| ENST00000593067.1:c.-184+33_-184+34del | ENSP00000467124.1:n.-184+33_-184+34del | |
| NM_005557.3:c.531+33_531+34del | NP_005548.2:n.531+33_531+34del | |
| NM_005557.4:c.531+33_531+34del MANE Select | NP_005548.2:n.531+33_531+34del |