Linked Data
gnomAD v4:
11-6318985-GGT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6318989_6318990del , CM000673.2:g.6318989_6318990del | GRCh38 |
| NC_000011.9:g.6340219_6340220del , CM000673.1:g.6340219_6340220del | GRCh37 |
| NC_000011.8:g.6296795_6296796del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.*176_*177del MANE Select | ENSP00000307292.3:n.*176_*177del | |
| ENST00000303927.3:c.*176_*177del | ENSP00000307292.3:n.*176_*177del | |
| ENST00000532354.1:n.984_985del | ||
| NM_145040.2:c.*176_*177del | NP_659477.2:n.*176_*177del | |
| XR_930997.1:n.720+769_720+770del | ||
| NM_145040.3:c.*176_*177del MANE Select | NP_659477.2:n.*176_*177del |