Linked Data
gnomAD v4:
13-48045677-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48045680del , CM000675.2:g.48045680del | GRCh38 |
| NC_000013.10:g.48619816del , CM000675.1:g.48619816del | GRCh37 |
| NC_000013.9:g.47517817del | NCBI36 |
| NG_047021.1:g.13114del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258662.3:c.376del MANE Select | ENSP00000258662.1:p.Glu126LysfsTer16 | |
| ENST00000258662.2:c.376del | ENSP00000258662.1:p.Glu126LysfsTer16 | |
| NM_018283.2:c.376del | NP_060753.1:p.Glu126LysfsTer16 | |
| NM_018283.3:c.376del | NP_060753.1:p.Glu126LysfsTer16 | |
| NR_136687.1:n.556del | ||
| NR_136688.1:n.556del | ||
| NM_018283.4:c.376del MANE Select | NP_060753.1:p.Glu126LysfsTer16 | |
| NR_136687.2:n.397del | ||
| NR_136688.2:n.397del |