Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226976_5226977insG , CM000673.2:g.5226976_5226977insG | GRCh38 |
| NC_000011.9:g.5248206_5248207insG , CM000673.1:g.5248206_5248207insG | GRCh37 |
| NC_000011.8:g.5204782_5204783insG | NCBI36 |
| NG_000007.3:g.70639_70640insC | |
| NG_059281.1:g.5095_5096insC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.45_46insC | ENSP00000494175.1:p.Trp16LeufsTer8 | |
| ENST00000335295.4:c.45_46insC MANE Select | ENSP00000333994.3:p.Trp16LeufsTer8 | |
| ENST00000380315.2:c.45_46insC | ENSP00000369671.2:p.Trp16LeufsTer8 | |
| ENST00000485743.1:n.96_97insC | ||
| ENST00000633227.1:c.45_46insC | ENSP00000488004.1:p.Trp16LeufsTer8 | |
| NM_000518.4:c.45_46insC | NP_000509.1:p.Trp16LeufsTer8 | |
| NM_000518.5:c.45_46insC MANE Select | NP_000509.1:p.Trp16LeufsTer8 |