Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64759705dup , CM000673.2:g.64759705dup | GRCh38 |
| NC_000011.9:g.64527177dup , CM000673.1:g.64527177dup | GRCh37 |
| NC_000011.8:g.64283753dup | NCBI36 |
| NG_013018.1:g.6011dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.194dup MANE Select | ENSP00000164139.3:p.Arg67AlafsTer11 | |
| ENST00000164139.3:c.194dup | ENSP00000164139.3:p.Arg67AlafsTer11 | |
| ENST00000377432.7:c.194dup | ENSP00000366650.3:p.Arg67AlafsTer11 | |
| NM_001164716.1:c.194dup | NP_001158188.1:p.Arg67AlafsTer11 | |
| NM_005609.2:c.194dup | NP_005600.1:p.Arg67AlafsTer11 | |
| NM_005609.3:c.194dup | NP_005600.1:p.Arg67AlafsTer11 | |
| NM_005609.4:c.194dup MANE Select | NP_005600.1:p.Arg67AlafsTer11 |