Linked Data
gnomAD v4:
13-48045817-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48045821del , CM000675.2:g.48045821del | GRCh38 |
| NC_000013.10:g.48619957del , CM000675.1:g.48619957del | GRCh37 |
| NC_000013.9:g.47517958del | NCBI36 |
| NG_047021.1:g.13255del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258662.3:c.*22del MANE Select | ENSP00000258662.1:n.*22del | |
| ENST00000258662.2:c.*22del | ENSP00000258662.1:n.*22del | |
| NM_018283.2:c.*22del | NP_060753.1:n.*22del | |
| NM_018283.3:c.*22del | NP_060753.1:n.*22del | |
| NR_136687.1:n.697del | ||
| NR_136688.1:n.675+22del | ||
| NM_018283.4:c.*22del MANE Select | NP_060753.1:n.*22del | |
| NR_136687.2:n.538del | ||
| NR_136688.2:n.516+22del |