Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186085865_186085869delinsTTTTA , CM000666.2:g.186085865_186085869delinsTTTTA | GRCh38 |
| NC_000004.11:g.187007019_187007023delinsTTTTA , CM000666.1:g.187007019_187007023delinsTTTTA | GRCh37 |
| NC_000004.10:g.187244013_187244017delinsTTTTA | NCBI36 |
| NG_007278.1:g.21711_21715delinsTTTTA , LRG_117:g.21711_21715delinsTTTTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698352.1:c.*3259_*3263delinsTTTTA | ENSP00000513675.1:n.*3259_*3263delinsTTTTA | |
| ENST00000698353.1:n.3582_3586delinsTTTTA | ||
| ENST00000698354.1:c.*992_*996delinsTTTTA | ENSP00000513676.1:n.*992_*996delinsTTTTA | |
| ENST00000296795.8:c.*992_*996delinsTTTTA MANE Select | ENSP00000296795.3:n.*992_*996delinsTTTTA | |
| ENST00000296795.7:c.*992_*996delinsTTTTA | ENSP00000296795.2:n.*992_*996delinsTTTTA | |
| NM_003265.3:c.*992_*996delinsTTTTA MANE Select | NP_003256.1:n.*992_*996delinsTTTTA |