Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42950363dup , CM000677.2:g.42950363dup | GRCh38 |
| NC_000015.9:g.43242561dup , CM000677.1:g.43242561dup | GRCh37 |
| NC_000015.8:g.41029853dup | NCBI36 |
| NG_012182.1:g.160727dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290650.9:c.5008dup MANE Select | ENSP00000290650.4:p.Ile1670AsnfsTer10 | |
| ENST00000290650.8:c.5008dup | ENSP00000290650.4:p.Ile1670AsnfsTer10 | |
| ENST00000562173.1:n.213dup | ||
| NM_174916.2:c.5008dup | NP_777576.1:p.Ile1670AsnfsTer10 | |
| NM_174916.3:c.5008dup MANE Select | NP_777576.1:p.Ile1670AsnfsTer10 |