Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226949_5226950insTG , CM000673.2:g.5226949_5226950insTG | GRCh38 |
| NC_000011.9:g.5248179_5248180insTG , CM000673.1:g.5248179_5248180insTG | GRCh37 |
| NC_000011.8:g.5204755_5204756insTG | NCBI36 |
| NG_000007.3:g.70666_70667insCA | |
| NG_059281.1:g.5122_5123insCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.72_73insCA | ENSP00000494175.1:p.Gly25GlnfsTer? | |
| ENST00000335295.4:c.72_73insCA MANE Select | ENSP00000333994.3:p.Gly25GlnfsTer? | |
| ENST00000380315.2:c.72_73insCA | ENSP00000369671.2:p.Gly25GlnfsTer? | |
| ENST00000485743.1:n.123_124insCA | ||
| ENST00000633227.1:c.72_73insCA | ENSP00000488004.1:p.Gly25GlnfsTer15 | |
| NM_000518.4:c.72_73insCA | NP_000509.1:p.Gly25GlnfsTer? | |
| NM_000518.5:c.72_73insCA MANE Select | NP_000509.1:p.Gly25GlnfsTer? |