Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40200334_40200335delinsTA , CM000677.2:g.40200334_40200335delinsTA | GRCh38 |
| NC_000015.9:g.40492535_40492536delinsTA , CM000677.1:g.40492535_40492536delinsTA | GRCh37 |
| NC_000015.8:g.38279827_38279828delinsTA | NCBI36 |
| NG_016338.1:g.44326_44327delinsTA , LRG_489:g.44326_44327delinsTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287598.11:c.1492_1493delinsTA MANE Select | ENSP00000287598.7:p.Val498Tyr | |
| ENST00000287598.10:c.1492_1493delinsTA | ENSP00000287598.6:p.Val498Tyr | |
| ENST00000412359.7:c.1534_1535delinsTA | ENSP00000398470.3:p.Val512Tyr | |
| ENST00000558972.1:n.297_298delinsTA | ||
| ENST00000559733.5:c.604_605delinsTA | ||
| NM_001211.5:c.1492_1493delinsTA , LRG_489t1:c.1492_1493delinsTA | NP_001202.4:p.Val498Tyr | |
| XR_001751506.1:n.218-20134_218-20133delinsTA | ||
| NM_001211.6:c.1492_1493delinsTA MANE Select | NP_001202.5:p.Val498Tyr |