Linked Data
gnomAD v4:
X-78117908-GTT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78117913_78117914del , CM000685.2:g.78117913_78117914del | GRCh38 |
| NC_000023.10:g.77373410_77373411del , CM000685.1:g.77373410_77373411del | GRCh37 |
| NC_000023.9:g.77260066_77260067del | NCBI36 |
| NG_008862.1:g.18745_18746del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373316.5:c.522-138_522-137del MANE Select | ENSP00000362413.4:n.522-138_522-137del | |
| ENST00000644362.1:c.438-138_438-137del | ENSP00000496140.1:n.438-138_438-137del | |
| ENST00000373316.4:c.522-138_522-137del | ENSP00000362413.4:n.522-138_522-137del | |
| ENST00000491291.1:n.514-138_514-137del | ||
| NM_000291.3:c.522-138_522-137del | NP_000282.1:n.522-138_522-137del | |
| NM_000291.4:c.522-138_522-137del MANE Select | NP_000282.1:n.522-138_522-137del |