Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.34255407dup , CM000679.2:g.34255407dup | GRCh38 |
| NC_000017.10:g.32582426dup , CM000679.1:g.32582426dup | GRCh37 |
| NC_000017.9:g.29606539dup | NCBI36 |
| NG_012123.1:g.5131dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580907.6:c.58dup | ENSP00000462156.1:p.Gln20ProfsTer18 | |
| ENST00000624362.2:n.123dup | ||
| ENST00000225831.4:c.58dup MANE Select | ENSP00000225831.4:p.Gln20ProfsTer18 | |
| ENST00000580907.5:c.58dup | ENSP00000462156.1:p.Gln20ProfsTer18 | |
| ENST00000624362.1:n.190dup | ||
| NM_002982.3:c.58dup | NP_002973.1:p.Gln20ProfsTer18 | |
| NM_002982.4:c.58dup MANE Select | NP_002973.1:p.Gln20ProfsTer18 |