Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64759691_64759692insC , CM000673.2:g.64759691_64759692insC | GRCh38 |
| NC_000011.9:g.64527163_64527164insC , CM000673.1:g.64527163_64527164insC | GRCh37 |
| NC_000011.8:g.64283739_64283740insC | NCBI36 |
| NG_013018.1:g.6024_6025insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.207_208insG MANE Select | ENSP00000164139.3:p.Arg70AlafsTer8 | |
| ENST00000164139.3:c.207_208insG | ENSP00000164139.3:p.Arg70AlafsTer8 | |
| ENST00000377432.7:c.207_208insG | ENSP00000366650.3:p.Arg70AlafsTer8 | |
| NM_001164716.1:c.207_208insG | NP_001158188.1:p.Arg70AlafsTer8 | |
| NM_005609.2:c.207_208insG | NP_005600.1:p.Arg70AlafsTer8 | |
| NM_005609.3:c.207_208insG | NP_005600.1:p.Arg70AlafsTer8 | |
| NM_005609.4:c.207_208insG MANE Select | NP_005600.1:p.Arg70AlafsTer8 |