Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.103458495_103458497delinsGGT , CM000672.2:g.103458495_103458497delinsGGT | GRCh38 |
| NC_000010.10:g.105218252_105218254delinsGGT , CM000672.1:g.105218252_105218254delinsGGT | GRCh37 |
| NC_000010.9:g.105208242_105208244delinsGGT | NCBI36 |
| NG_016855.1:g.5395_5397delinsACC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329905.6:c.255_257delinsACC MANE Select | ENSP00000329926.6:p.Leu86Pro | |
| ENST00000329905.5:c.255_257delinsACC | ENSP00000329926.5:p.Leu86Pro | |
| NM_001001412.3:c.255_257delinsACC | NP_001001412.3:p.Leu86Pro | |
| NM_001001412.4:c.255_257delinsACC MANE Select | NP_001001412.3:p.Leu86Pro |