Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625019dup , CM000673.2:g.22625019dup | GRCh38 |
| NC_000011.9:g.22646565dup , CM000673.1:g.22646565dup | GRCh37 |
| NC_000011.8:g.22603141dup | NCBI36 |
| NG_007425.1:g.5823dup , LRG_527:g.5823dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.792dup MANE Select | ENSP00000330875.3:p.Ser265Ter | |
| ENST00000327470.4:c.792dup | ENSP00000330875.3:p.Ser265Ter | |
| NM_022725.3:c.792dup , LRG_527t1:c.792dup | NP_073562.1:p.Ser265Ter | |
| NM_022725.4:c.792dup MANE Select | NP_073562.1:p.Ser265Ter |