Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70175674_70175675insTTTG , CM000679.2:g.70175674_70175675insTTTG | GRCh38 |
| NC_000017.10:g.68171815_68171816insTTTG , CM000679.1:g.68171815_68171816insTTTG | GRCh37 |
| NC_000017.9:g.65683410_65683411insTTTG | NCBI36 |
| NG_008798.1:g.11140_11141insTTTG , LRG_328:g.11140_11141insTTTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243457.4:c.635_636insTTTG MANE Select | ENSP00000243457.2:p.Trp212CysfsTer29 | |
| ENST00000243457.3:c.635_636insTTTG | ENSP00000243457.2:p.Trp212CysfsTer29 | |
| ENST00000535240.1:c.635_636insTTTG | ENSP00000441848.1:p.Trp212CysfsTer29 | |
| NM_000891.2:c.635_636insTTTG , LRG_328t1:c.635_636insTTTG | NP_000882.1:p.Trp212CysfsTer29 | |
| XM_011524779.1:c.635_636insTTTG | XP_011523081.1:p.Trp212CysfsTer29 | |
| NM_000891.3:c.635_636insTTTG MANE Select | NP_000882.1:p.Trp212CysfsTer29 |