Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17027739dup , CM000663.2:g.17027739dup | GRCh38 |
| NC_000001.10:g.17354234dup , CM000663.1:g.17354234dup | GRCh37 |
| NC_000001.9:g.17226821dup | NCBI36 |
| NG_012340.1:g.31434dup , LRG_316:g.31434dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.369+12dup | ENSP00000481376.2:n.369+12dup | |
| ENST00000491274.6:c.498+12dup | ENSP00000480482.2:n.498+12dup | |
| ENST00000375499.8:c.540+12dup MANE Select | ENSP00000364649.3:n.540+12dup | |
| ENST00000375499.7:c.540+12dup | ENSP00000364649.3:n.540+12dup | |
| ENST00000475506.1:n.469dup | ||
| ENST00000485515.5:n.474+12dup | ||
| ENST00000491274.5:c.498+12dup | ENSP00000480482.1:n.498+12dup | |
| NM_003000.2:c.540+12dup , LRG_316t1:c.540+12dup | NP_002991.2:n.540+12dup | |
| NM_003000.3:c.540+12dup MANE Select | NP_002991.2:n.540+12dup |