Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25004804_25004805insCC , CM000685.2:g.25004804_25004805insCC | GRCh38 |
| NC_000023.10:g.25022921_25022922insCC , CM000685.1:g.25022921_25022922insCC | GRCh37 |
| NC_000023.9:g.24932842_24932843insCC | NCBI36 |
| NG_008281.1:g.16145_16146insGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.1555_1556insGG MANE Select | ENSP00000368332.4:p.Asp519GlyfsTer15 | |
| ENST00000379044.4:c.1555_1556insGG | ENSP00000368332.4:p.Asp519GlyfsTer15 | |
| NM_139058.2:c.1555_1556insGG | NP_620689.1:p.Asp519GlyfsTer15 | |
| NM_139058.3:c.1555_1556insGG MANE Select | NP_620689.1:p.Asp519GlyfsTer15 |