Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68431511_68431512insGCAG , CM000663.2:g.68431511_68431512insGCAG | GRCh38 |
| NC_000001.10:g.68897194_68897195insGCAG , CM000663.1:g.68897194_68897195insGCAG | GRCh37 |
| NC_000001.9:g.68669782_68669783insGCAG | NCBI36 |
| NG_008472.1:g.23451_23452insCCTG | |
| NG_008472.2:g.23451_23452insCCTG |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000329.3:c.1205_1206insCCTG MANE Select | NP_000320.1:p.Trp402CysfsTer6 |
| ENST00000262340.6:c.1205_1206insCCTG MANE Select | ENSP00000262340.5:p.Trp402CysfsTer6 |
| NM_000329.2:c.1205_1206insCCTG | NP_000320.1:p.Trp402CysfsTer6 |
| ENST00000262340.5:c.1205_1206insCCTG | ENSP00000262340.5:p.Trp402CysfsTer6 |
| XM_017002027.1:c.929_930insCCTG | XP_016857516.1:p.Trp310CysfsTer6 |