Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.83508931_83508934dup , CM000685.2:g.83508931_83508934dup | GRCh38 |
| NC_000023.10:g.82763939_82763942dup , CM000685.1:g.82763939_82763942dup | GRCh37 |
| NC_000023.9:g.82650595_82650598dup | NCBI36 |
| NG_009936.2:g.5671_5674dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644024.2:c.607_610dup MANE Select | ENSP00000495996.1:p.Arg204ThrfsTer23 | |
| ENST00000373200.4:c.607_610dup | ENSP00000362296.2:p.Arg204ThrfsTer23 | |
| NM_000307.4:c.607_610dup | NP_000298.3:p.Arg204ThrfsTer23 | |
| NM_000307.5:c.607_610dup MANE Select | NP_000298.3:p.Arg204ThrfsTer23 |