Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48045752_48045755delinsAAAG , CM000675.2:g.48045752_48045755delinsAAAG | GRCh38 |
| NC_000013.10:g.48619888_48619891delinsAAAG , CM000675.1:g.48619888_48619891delinsAAAG | GRCh37 |
| NC_000013.9:g.47517889_47517892delinsAAAG | NCBI36 |
| NG_047021.1:g.13186_13189delinsAAAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258662.3:c.448_451delinsAAAG MANE Select | ENSP00000258662.1:p.Lys150= | |
| ENST00000258662.2:c.448_451delinsAAAG | ENSP00000258662.1:p.Lys150= | |
| NM_018283.2:c.448_451delinsAAAG | NP_060753.1:p.Lys150= | |
| NM_018283.3:c.448_451delinsAAAG | NP_060753.1:p.Lys150= | |
| NR_136687.1:n.628_631delinsAAAG | ||
| NR_136688.1:n.628_631delinsAAAG | ||
| NM_018283.4:c.448_451delinsAAAG MANE Select | NP_060753.1:p.Lys150= | |
| NR_136687.2:n.469_472delinsAAAG | ||
| NR_136688.2:n.469_472delinsAAAG |