Linked Data
gnomAD v4:
X-78117924-TAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78117925_78117926del , CM000685.2:g.78117925_78117926del | GRCh38 |
| NC_000023.10:g.77373422_77373423del , CM000685.1:g.77373422_77373423del | GRCh37 |
| NC_000023.9:g.77260078_77260079del | NCBI36 |
| NG_008862.1:g.18757_18758del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373316.5:c.522-126_522-125del MANE Select | ENSP00000362413.4:n.522-126_522-125del | |
| ENST00000644362.1:c.438-126_438-125del | ENSP00000496140.1:n.438-126_438-125del | |
| ENST00000373316.4:c.522-126_522-125del | ENSP00000362413.4:n.522-126_522-125del | |
| ENST00000491291.1:n.514-126_514-125del | ||
| NM_000291.3:c.522-126_522-125del | NP_000282.1:n.522-126_522-125del | |
| NM_000291.4:c.522-126_522-125del MANE Select | NP_000282.1:n.522-126_522-125del |