Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767716_28767721dup , CM000676.2:g.28767716_28767721dup | GRCh38 |
| NC_000014.8:g.29236922_29236927dup , CM000676.1:g.29236922_29236927dup | GRCh37 |
| NC_000014.7:g.28306673_28306678dup | NCBI36 |
| NG_009367.1:g.5636_5641dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.437_442dup | ENSP00000516406.1:p.Lys147_Gly148insGluLys | |
| ENST00000313071.7:c.437_442dup MANE Select | ENSP00000339004.3:p.Lys147_Gly148insGluLys | |
| ENST00000313071.6:c.437_442dup | ENSP00000339004.3:p.Lys147_Gly148insGluLys | |
| NM_005249.4:c.437_442dup | NP_005240.3:p.Lys147_Gly148insGluLys | |
| NM_005249.5:c.437_442dup MANE Select | NP_005240.3:p.Lys147_Gly148insGluLys |