Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76347723_76347727delinsTAATA , CM000674.2:g.76347723_76347727delinsTAATA | GRCh38 |
| NC_000012.11:g.76741503_76741507delinsTAATA , CM000674.1:g.76741503_76741507delinsTAATA | GRCh37 |
| NC_000012.10:g.75265634_75265638delinsTAATA | NCBI36 |
| NG_016357.1:g.5716_5720delinsTATTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650064.2:c.258_262delinsTATTA MANE Select | ENSP00000497413.1:p.Phe86= | |
| ENST00000393262.3:c.258_262delinsTATTA | ENSP00000376946.3:p.Phe86= | |
| NM_024685.3:c.258_262delinsTATTA | NP_078961.3:p.Phe86= | |
| NM_024685.4:c.258_262delinsTATTA MANE Select | NP_078961.3:p.Phe86= |