Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225698_5225699delinsC , CM000673.2:g.5225698_5225699delinsC | GRCh38 |
| NC_000011.9:g.5246928_5246929delinsC , CM000673.1:g.5246928_5246929delinsC | GRCh37 |
| NC_000011.8:g.5203504_5203505delinsC | NCBI36 |
| NG_000007.3:g.71917_71918delinsG | |
| NG_059281.1:g.6373_6374delinsG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.343_344delinsG | ENSP00000494175.1:p.Leu115GlyfsTer? | |
| ENST00000335295.4:c.343_344delinsG MANE Select | ENSP00000333994.3:p.Leu115GlyfsTer? | |
| ENST00000475226.1:n.275_276delinsG | ||
| ENST00000633227.1:c.*159_*160delinsG | ENSP00000488004.1:n.*159_*160delinsG | |
| NM_000518.4:c.343_344delinsG | NP_000509.1:p.Leu115GlyfsTer? | |
| NM_000518.5:c.343_344delinsG MANE Select | NP_000509.1:p.Leu115GlyfsTer? |