Linked Data
gnomAD v4:
X-68830045-TGCGG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.68830054_68830057del , CM000685.2:g.68830054_68830057del | GRCh38 |
| NC_000023.10:g.68049897_68049900del , CM000685.1:g.68049897_68049900del | GRCh37 |
| NC_000023.9:g.67966622_67966625del | NCBI36 |
| NG_008887.1:g.6058_6061del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000204961.5:c.128+150_128+153del MANE Select | ENSP00000204961.4:n.128+150_128+153del | |
| ENST00000204961.4:c.128+150_128+153del | ENSP00000204961.4:n.128+150_128+153del | |
| NM_004429.4:c.128+150_128+153del | NP_004420.1:n.128+150_128+153del | |
| NM_004429.5:c.128+150_128+153del MANE Select | NP_004420.1:n.128+150_128+153del |