Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2278328_2278329insCC , CM000678.2:g.2278328_2278329insCC | GRCh38 |
| NC_000016.9:g.2328329_2328330insCC , CM000678.1:g.2328329_2328330insCC | GRCh37 |
| NC_000016.8:g.2268330_2268331insCC | NCBI36 |
| NG_011790.1:g.67419_67420insGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.4678_4679insGG MANE Select | ENSP00000301732.5:p.Ala1560GlyfsTer? | |
| ENST00000301732.9:c.4678_4679insGG | ENSP00000301732.5:p.Ala1560GlyfsTer? | |
| ENST00000382381.7:c.4504_4505insGG | ENSP00000371818.3:p.Ala1502GlyfsTer? | |
| ENST00000566200.1:n.1199_1200insGG | ||
| NM_001089.2:c.4678_4679insGG | NP_001080.2:p.Ala1560GlyfsTer? | |
| NM_001089.3:c.4678_4679insGG MANE Select | NP_001080.2:p.Ala1560GlyfsTer? |