Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118339778dup , CM000673.2:g.118339778dup | GRCh38 |
| NC_000011.9:g.118210493dup , CM000673.1:g.118210493dup | GRCh37 |
| NC_000011.8:g.117715703dup | NCBI36 |
| NG_007566.1:g.435dup , LRG_39:g.435dup | |
| NG_009891.1:g.7971dup , LRG_37:g.7971dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695666.1:n.894dup | ||
| ENST00000695667.1:n.412dup | ||
| ENST00000695668.1:n.2392dup | ||
| ENST00000300692.9:c.406+1dup | ||
| ENST00000300692.8:c.406+1dup | ||
| ENST00000392884.2:c.275-280dup | ENSP00000376622.2:n.275-280dup | |
| ENST00000526561.1:n.80-280dup | ||
| ENST00000529594.5:c.187+1dup | ||
| ENST00000534687.5:c.288-280dup | ||
| NM_000732.4:c.406+1dup , LRG_37t1:c.406+1dup | ||
| NM_001040651.1:c.275-280dup | NP_001035741.1:n.275-280dup | |
| NM_001040651.2:c.275-280dup | NP_001035741.1:n.275-280dup | |
| NM_000732.6:c.406+1dup |