Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33302352dup , CM000681.2:g.33302352dup | GRCh38 |
| NC_000019.9:g.33793258dup , CM000681.1:g.33793258dup | GRCh37 |
| NC_000019.8:g.38485098dup | NCBI36 |
| NG_012022.1:g.5178dup , LRG_456:g.5178dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000498907.3:c.68dup MANE Select | ENSP00000427514.1:p.His24AlafsTer? | |
| ENST00000498907.2:c.68dup | ENSP00000427514.1:p.His24AlafsTer? | |
| NM_001285829.1:c.-290dup | NP_001272758.1:n.-290dup | |
| NM_001287424.1:c.173dup | NP_001274353.1:p.His59AlafsTer? | |
| NM_001287435.1:c.26dup | NP_001274364.1:p.His10AlafsTer? | |
| NM_004364.4:c.68dup | NP_004355.2:p.His24AlafsTer? | |
| NM_001287424.2:c.173dup | NP_001274353.1:p.His59AlafsTer? | |
| NM_004364.5:c.68dup MANE Select | NP_004355.2:p.His24AlafsTer? | |
| NM_001285829.2:c.-290dup | NP_001272758.1:n.-290dup | |
| NM_001287435.2:c.26dup | NP_001274364.1:p.His10AlafsTer? |