Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140114715_140114736dup , CM000667.2:g.140114715_140114736dup | GRCh38 |
| NC_000005.9:g.139494300_139494321dup , CM000667.1:g.139494300_139494321dup | GRCh37 |
| NC_000005.8:g.139474484_139474505dup | NCBI36 |
| NG_041813.1:g.5593_5614dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331327.5:c.534_555dup MANE Select | ENSP00000332706.3:p.Gln186TrpfsTer22 | |
| ENST00000651386.1:c.534_555dup | ENSP00000499133.1:p.Gln186TrpfsTer22 | |
| ENST00000331327.4:c.534_555dup | ENSP00000332706.3:p.Gln186TrpfsTer22 | |
| NM_005859.4:c.534_555dup | NP_005850.1:p.Gln186TrpfsTer22 | |
| NM_005859.5:c.534_555dup MANE Select | NP_005850.1:p.Gln186TrpfsTer22 |