Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154928638_154928639insTAGTGTA , CM000685.2:g.154928638_154928639insTAGTGTA | GRCh38 |
| NC_000023.10:g.154156913_154156914insTAGTGTA , CM000685.1:g.154156913_154156914insTAGTGTA | GRCh37 |
| NC_000023.9:g.153810107_153810108insTAGTGTA | NCBI36 |
| NG_011403.1:g.99086_99087insACACTAT | |
| NG_011403.2:g.99086_99087insACACTAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5152_5153insACACTAT MANE Select | ENSP00000353393.4:p.Phe1718TyrfsTer17 | |
| ENST00000360256.8:c.5152_5153insACACTAT | ENSP00000353393.4:p.Phe1718TyrfsTer17 | |
| NM_000132.3:c.5152_5153insACACTAT | NP_000123.1:p.Phe1718TyrfsTer17 | |
| XM_011531126.1:c.5047_5048insACACTAT | XP_011529428.1:p.Phe1683TyrfsTer17 | |
| NM_000132.4:c.5152_5153insACACTAT MANE Select | NP_000123.1:p.Phe1718TyrfsTer17 |