Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226988_5226989delinsCG , CM000673.2:g.5226988_5226989delinsCG | GRCh38 |
| NC_000011.9:g.5248218_5248219delinsCG , CM000673.1:g.5248218_5248219delinsCG | GRCh37 |
| NC_000011.8:g.5204794_5204795delinsCG | NCBI36 |
| NG_000007.3:g.70627_70628delinsCG | |
| NG_059281.1:g.5083_5084delinsCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.33_34delinsCG | ENSP00000494175.1:p.Ala11= | |
| ENST00000335295.4:c.33_34delinsCG MANE Select | ENSP00000333994.3:p.Ala11= | |
| ENST00000380315.2:c.33_34delinsCG | ENSP00000369671.2:p.Ala11= | |
| ENST00000485743.1:n.84_85delinsCG | ||
| ENST00000633227.1:c.33_34delinsCG | ENSP00000488004.1:p.Ala11= | |
| NM_000518.4:c.33_34delinsCG | NP_000509.1:p.Ala11= | |
| NM_000518.5:c.33_34delinsCG MANE Select | NP_000509.1:p.Ala11= |