Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189005373_189005376dup , CM000664.2:g.189005373_189005376dup | GRCh38 |
| NC_000002.11:g.189870099_189870102dup , CM000664.1:g.189870099_189870102dup | GRCh37 |
| NC_000002.10:g.189578344_189578347dup | NCBI36 |
| NG_007404.1:g.36001_36004dup , LRG_3:g.36001_36004dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.2856_2859dup | ENSP00000415346.2:p.Gly954Ter | |
| ENST00000304636.9:c.2955_2958dup MANE Select | ENSP00000304408.4:p.Gly987Ter | |
| ENST00000304636.7:c.2955_2958dup | ENSP00000304408.3:p.Gly987Ter | |
| ENST00000317840.9:c.2527+2337_2527+2340dup | ENSP00000315243.6:n.2527+2337_2527+2340dup | |
| NM_000090.3:c.2955_2958dup , LRG_3t1:c.2955_2958dup | NP_000081.1:p.Gly987Ter | |
| NM_000090.4:c.2955_2958dup MANE Select | NP_000081.2:p.Gly987Ter |