Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625506dup , CM000673.2:g.22625506dup | GRCh38 |
| NC_000011.9:g.22647052dup , CM000673.1:g.22647052dup | GRCh37 |
| NC_000011.8:g.22603628dup | NCBI36 |
| NG_007425.1:g.5338dup , LRG_527:g.5338dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.307dup MANE Select | ENSP00000330875.3:p.Leu103ProfsTer24 | |
| ENST00000327470.4:c.307dup | ENSP00000330875.3:p.Leu103ProfsTer24 | |
| NM_022725.3:c.307dup , LRG_527t1:c.307dup | NP_073562.1:p.Leu103ProfsTer24 | |
| NM_022725.4:c.307dup MANE Select | NP_073562.1:p.Leu103ProfsTer24 |