Linked Data
gnomAD v4:
17-82727522-GGGCACTGCTGCTCATAGGTACCTTTCCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82727523_82727550del , CM000679.2:g.82727523_82727550del | GRCh38 |
| NC_000017.10:g.80685399_80685426del , CM000679.1:g.80685399_80685426del | GRCh37 |
| NC_000017.9:g.78278688_78278715del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269373.11:c.*352_*379del MANE Select | ENSP00000269373.6:n.*352_*379del | |
| ENST00000269373.10:c.*352_*379del | ENSP00000269373.6:n.*352_*379del | |
| ENST00000571594.1:c.53+356_53+383del | ENSP00000459751.1:n.53+356_53+383del | |
| NM_024619.3:c.*352_*379del | NP_078895.2:n.*352_*379del | |
| NR_046408.1:n.1460_1487del | ||
| XM_024450948.1:c.*352_*379del | XP_024306716.1:n.*352_*379del | |
| NM_024619.4:c.*352_*379del MANE Select | NP_078895.2:n.*352_*379del | |
| NR_046408.2:n.1460_1487del |