Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127854338dup , CM000671.2:g.127854338dup | GRCh38 |
| NC_000009.11:g.130616617dup , CM000671.1:g.130616617dup | GRCh37 |
| NC_000009.10:g.129656438dup | NCBI36 |
| NG_009551.1:g.5433dup , LRG_589:g.5433dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373203.9:c.20dup MANE Select | ENSP00000362299.4:p.Leu8SerfsTer24 | |
| ENST00000344849.4:c.20dup | ENSP00000341917.3:p.Leu8SerfsTer24 | |
| ENST00000373203.8:c.20dup | ENSP00000362299.4:p.Leu8SerfsTer24 | |
| NM_000118.3:c.20dup , LRG_589t1:c.20dup | NP_000109.1:p.Leu8SerfsTer24 | |
| NM_001114753.2:c.20dup , LRG_589t2:c.20dup | NP_001108225.1:p.Leu8SerfsTer24 | |
| NM_001114753.3:c.20dup MANE Select | NP_001108225.1:p.Leu8SerfsTer24 |