Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189003043dup , CM000664.2:g.189003043dup | GRCh38 |
| NC_000002.11:g.189867769dup , CM000664.1:g.189867769dup | GRCh37 |
| NC_000002.10:g.189576014dup | NCBI36 |
| NG_007404.1:g.33671dup , LRG_3:g.33671dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450867.2:c.2435dup | ENSP00000415346.2:p.Gly813TrpfsTer17 | |
| ENST00000304636.9:c.2534dup MANE Select | ENSP00000304408.4:p.Gly846TrpfsTer17 | |
| ENST00000304636.7:c.2534dup | ENSP00000304408.3:p.Gly846TrpfsTer17 | |
| ENST00000317840.9:c.2527+7dup | ENSP00000315243.6:n.2527+7dup | |
| NM_000090.3:c.2534dup , LRG_3t1:c.2534dup | NP_000081.1:p.Gly846TrpfsTer17 | |
| NM_000090.4:c.2534dup MANE Select | NP_000081.2:p.Gly846TrpfsTer17 |