Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42964154dup , CM000668.2:g.42964154dup | GRCh38 |
| NC_000006.11:g.42931892dup , CM000668.1:g.42931892dup | GRCh37 |
| NC_000006.10:g.43039870dup | NCBI36 |
| NG_008370.1:g.20090dup | |
| NG_008396.1:g.8393dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000287.4:c.*181dup MANE Select | NP_000278.3:n.*181dup |
| ENST00000304611.13:c.*181dup MANE Select | ENSP00000303511.8:n.*181dup |
| NM_000287.3:c.*181dup | NP_000278.3:n.*181dup |
| NM_001316313.1:c.*181dup | NP_001303242.1:n.*181dup |
| NM_001316313.2:c.*181dup | NP_001303242.1:n.*181dup |
| NR_133009.1:n.2970dup | |
| NR_133009.2:n.2908dup | |
| ENST00000304611.12:c.*181dup | ENSP00000303511.8:n.*181dup |
| XM_011514661.1:c.*181dup | XP_011512963.1:n.*181dup |
| XM_011514661.2:c.*181dup | XP_011512963.1:n.*181dup |
| XR_001743466.2:n.4086dup |