Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5045006_5045007delinsTT , CM000674.2:g.5045006_5045007delinsTT | GRCh38 |
| NC_000012.11:g.5154172_5154173delinsTT , CM000674.1:g.5154172_5154173delinsTT | GRCh37 |
| NC_000012.10:g.5024433_5024434delinsTT | NCBI36 |
| NG_012198.1:g.6088_6089delinsTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.859_860delinsTT MANE Select | ENSP00000252321.3:p.Ala287Leu | |
| ENST00000252321.4:c.859_860delinsTT | ENSP00000252321.3:p.Ala287Leu | |
| NM_002234.3:c.859_860delinsTT | NP_002225.2:p.Ala287Leu | |
| NM_002234.4:c.859_860delinsTT MANE Select | NP_002225.2:p.Ala287Leu |