Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127854371dup , CM000671.2:g.127854371dup | GRCh38 |
| NC_000009.11:g.130616650dup , CM000671.1:g.130616650dup | GRCh37 |
| NC_000009.10:g.129656471dup | NCBI36 |
| NG_009551.1:g.5402dup , LRG_589:g.5402dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373203.9:c.-12dup MANE Select | ENSP00000362299.4:n.-12dup | |
| ENST00000344849.4:c.-12dup | ENSP00000341917.3:n.-12dup | |
| ENST00000373203.8:c.-12dup | ENSP00000362299.4:n.-12dup | |
| NM_000118.3:c.-12dup , LRG_589t1:c.-12dup | NP_000109.1:n.-12dup | |
| NM_001114753.2:c.-12dup , LRG_589t2:c.-12dup | NP_001108225.1:n.-12dup | |
| NM_001114753.3:c.-12dup MANE Select | NP_001108225.1:n.-12dup |