Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.23645673dup , CM000677.2:g.23645673dup | GRCh38 |
| NC_000015.9:g.23890820dup , CM000677.1:g.23890820dup | GRCh37 |
| NC_000015.8:g.21441913dup | NCBI36 |
| NG_016776.1:g.7174dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650528.1:c.2070dup MANE Select | ENSP00000497810.1:p.Ala691CysfsTer22 | |
| ENST00000532292.2:c.2070dup | ENSP00000433433.2:p.Ala691CysfsTer22 | |
| NM_019066.4:c.2070dup | NP_061939.3:p.Ala691CysfsTer22 | |
| NM_019066.5:c.2070dup MANE Select | NP_061939.3:p.Ala691CysfsTer22 |