Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8745673_8745674delinsTG , CM000665.2:g.8745673_8745674delinsTG | GRCh38 |
| NC_000003.11:g.8787359_8787360delinsTG , CM000665.1:g.8787359_8787360delinsTG | GRCh37 |
| NC_000003.10:g.8762359_8762360delinsTG | NCBI36 |
| NG_008797.2:g.16864_16865delinsTG , LRG_329:g.16864_16865delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343849.3:c.262_263delinsTG MANE Select | ENSP00000341940.2:p.Trp88= | |
| ENST00000343849.2:c.262_263delinsTG | ENSP00000341940.2:p.Trp88= | |
| ENST00000397368.2:c.262_263delinsTG | ENSP00000380525.2:p.Trp88= | |
| ENST00000472766.1:n.155+11683_155+11684delinsTG | ||
| NM_001234.4:c.262_263delinsTG | NP_001225.1:p.Trp88= | |
| NM_033337.2:c.262_263delinsTG , LRG_329t1:c.262_263delinsTG | NP_203123.1:p.Trp88= | |
| NM_001234.5:c.262_263delinsTG | NP_001225.1:p.Trp88= | |
| NM_033337.3:c.262_263delinsTG MANE Select | NP_203123.1:p.Trp88= |