Linked Data
gnomAD v4:
11-102527675-AGT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102527676_102527677del , CM000673.2:g.102527676_102527677del | GRCh38 |
| NC_000011.9:g.102398407_102398408del , CM000673.1:g.102398407_102398408del | GRCh37 |
| NC_000011.8:g.101903617_101903618del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260227.5:c.336-5_336-4del MANE Select | ENSP00000260227.4:n.336-5_336-4del | |
| ENST00000260227.4:c.336-5_336-4del | ENSP00000260227.4:n.336-5_336-4del | |
| ENST00000531200.1:n.383-5_383-4del | ||
| ENST00000533366.5:n.386-5_386-4del | ||
| NM_002423.3:c.336-5_336-4del | NP_002414.1:n.336-5_336-4del | |
| NM_002423.4:c.336-5_336-4del | NP_002414.1:n.336-5_336-4del | |
| NM_002423.5:c.336-5_336-4del MANE Select | NP_002414.1:n.336-5_336-4del |