Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226602_5226603delinsCC , CM000673.2:g.5226602_5226603delinsCC | GRCh38 |
| NC_000011.9:g.5247832_5247833delinsCC , CM000673.1:g.5247832_5247833delinsCC | GRCh37 |
| NC_000011.8:g.5204408_5204409delinsCC | NCBI36 |
| NG_000007.3:g.71013_71014delinsGG | |
| NG_059281.1:g.5469_5470delinsGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.289_290delinsGG | ENSP00000494175.1:p.Leu97Gly | |
| ENST00000335295.4:c.289_290delinsGG MANE Select | ENSP00000333994.3:p.Leu97Gly | |
| ENST00000475226.1:n.221_222delinsGG | ||
| ENST00000485743.1:n.340_341delinsGG | ||
| ENST00000633227.1:c.*105_*106delinsGG | ENSP00000488004.1:n.*105_*106delinsGG | |
| NM_000518.4:c.289_290delinsGG | NP_000509.1:p.Leu97Gly | |
| NM_000518.5:c.289_290delinsGG MANE Select | NP_000509.1:p.Leu97Gly |