Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20187909dup , CM000675.2:g.20187909dup | GRCh38 |
| NC_000013.10:g.20762048dup , CM000675.1:g.20762048dup | GRCh37 |
| NC_000013.9:g.19660048dup | NCBI36 |
| NG_008358.1:g.10070dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382844.2:c.*995dup | ENSP00000372295.1:n.*995dup | |
| ENST00000382848.5:c.*995dup MANE Select | ENSP00000372299.4:n.*995dup | |
| ENST00000382844.1:c.*995dup | ENSP00000372295.1:n.*995dup | |
| ENST00000382848.4:c.*995dup | ENSP00000372299.4:n.*995dup | |
| NM_004004.5:c.*995dup | NP_003995.2:n.*995dup | |
| XM_011535049.1:c.*995dup | XP_011533351.1:n.*995dup | |
| XM_011535049.2:c.*995dup | XP_011533351.1:n.*995dup | |
| NM_004004.6:c.*995dup MANE Select | NP_003995.2:n.*995dup |