Linked Data
gnomAD v4:
11-6318994-GACT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6318995_6318997del , CM000673.2:g.6318995_6318997del | GRCh38 |
| NC_000011.9:g.6340225_6340227del , CM000673.1:g.6340225_6340227del | GRCh37 |
| NC_000011.8:g.6296801_6296803del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.*166_*168del MANE Select | ENSP00000307292.3:n.*166_*168del | |
| ENST00000303927.3:c.*166_*168del | ENSP00000307292.3:n.*166_*168del | |
| ENST00000532354.1:n.974_976del | ||
| NM_145040.2:c.*166_*168del | NP_659477.2:n.*166_*168del | |
| XR_930997.1:n.720+775_720+777del | ||
| NM_145040.3:c.*166_*168del MANE Select | NP_659477.2:n.*166_*168del |