Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21007972dup , CM000664.2:g.21007972dup | GRCh38 |
| NC_000002.11:g.21230844dup , CM000664.1:g.21230844dup | GRCh37 |
| NC_000002.10:g.21084349dup | NCBI36 |
| NG_011793.1:g.41104dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000384.3:c.8898dup MANE Select | NP_000375.3:p.His2967ThrfsTer11 |
| ENST00000233242.5:c.8898dup MANE Select | ENSP00000233242.1:p.His2967ThrfsTer11 |
| NM_000384.2:c.8898dup | NP_000375.2:p.His2967ThrfsTer11 |
| ENST00000616098.4:c.8898dup | ENSP00000477990.1:p.His2967ThrfsTer11 |
| XM_011532809.1:c.5869+2763dup | XP_011531111.1:n.5869+2763dup |