Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269077_31269088dup , CM000668.2:g.31269077_31269088dup | GRCh38 |
| NC_000006.11:g.31236854_31236865dup , CM000668.1:g.31236854_31236865dup | GRCh37 |
| NC_000006.10:g.31344833_31344844dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.*81_*92dup MANE Select | ENSP00000365402.5:n.*81_*92dup | |
| ENST00000376228.9:c.*81_*92dup | ENSP00000365402.5:n.*81_*92dup | |
| ENST00000376237.8:c.*769_*780dup | ENSP00000365412.4:n.*769_*780dup | |
| ENST00000383329.7:c.*81_*92dup | ENSP00000372819.3:n.*81_*92dup | |
| ENST00000466892.5:n.415_426dup | ||
| ENST00000470363.5:n.940_951dup | ||
| ENST00000487245.5:n.1541_1552dup | ||
| NM_002117.5:c.*81_*92dup | NP_002108.4:n.*81_*92dup | |
| NM_002117.6:c.*81_*92dup MANE Select | NP_002108.4:n.*81_*92dup |