Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.30993926dup , CM000680.2:g.30993926dup | GRCh38 |
| NC_000018.9:g.28573892dup , CM000680.1:g.28573892dup | GRCh37 |
| NC_000018.8:g.26827890dup | NCBI36 |
| NG_016782.1:g.53901dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001941.5:c.*260dup MANE Select | NP_001932.2:n.*260dup |
| ENST00000360428.9:c.*260dup MANE Select | ENSP00000353608.4:n.*260dup |
| NM_001941.4:c.*260dup | NP_001932.2:n.*260dup |
| NM_024423.3:c.*474dup | NP_077741.2:n.*474dup |
| NM_024423.4:c.*474dup | NP_077741.2:n.*474dup |
| ENST00000360428.8:c.*260dup | ENSP00000353608.4:n.*260dup |
| ENST00000434452.5:c.*474dup | ENSP00000392068.1:n.*474dup |