Linked Data
gnomAD v4:
13-48045806-GAGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48045810_48045812del , CM000675.2:g.48045810_48045812del | GRCh38 |
| NC_000013.10:g.48619946_48619948del , CM000675.1:g.48619946_48619948del | GRCh37 |
| NC_000013.9:g.47517947_47517949del | NCBI36 |
| NG_047021.1:g.13244_13246del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258662.3:c.*11_*13del MANE Select | ENSP00000258662.1:n.*11_*13del | |
| ENST00000258662.2:c.*11_*13del | ENSP00000258662.1:n.*11_*13del | |
| NM_018283.2:c.*11_*13del | NP_060753.1:n.*11_*13del | |
| NM_018283.3:c.*11_*13del | NP_060753.1:n.*11_*13del | |
| NR_136687.1:n.686_688del | ||
| NR_136688.1:n.675+11_675+13del | ||
| NM_018283.4:c.*11_*13del MANE Select | NP_060753.1:n.*11_*13del | |
| NR_136687.2:n.527_529del | ||
| NR_136688.2:n.516+11_516+13del |