Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.84399793_84399795delinsGTT , CM000663.2:g.84399793_84399795delinsGTT | GRCh38 |
| NC_000001.10:g.84865476_84865478delinsGTT , CM000663.1:g.84865476_84865478delinsGTT | GRCh37 |
| NC_000001.9:g.84638064_84638066delinsGTT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370665.4:c.125+1104_125+1106delinsGTT MANE Select | ENSP00000359699.3:n.125+1104_125+1106delinsGTT | |
| ENST00000370665.3:c.125+1104_125+1106delinsGTT | ENSP00000359699.3:n.125+1104_125+1106delinsGTT | |
| NM_021233.2:c.125+1104_125+1106delinsGTT | NP_067056.2:n.125+1104_125+1106delinsGTT | |
| NM_021233.3:c.125+1104_125+1106delinsGTT MANE Select | NP_067056.2:n.125+1104_125+1106delinsGTT |