Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42721784_42721787dup , CM000668.2:g.42721784_42721787dup | GRCh38 |
| NC_000006.11:g.42689522_42689525dup , CM000668.1:g.42689522_42689525dup | GRCh37 |
| NC_000006.10:g.42797500_42797503dup | NCBI36 |
| NG_009176.1:g.5834_5837dup | |
| NG_009176.2:g.5834_5837dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.548_551dup MANE Select | ENSP00000230381.5:p.Tyr184Ter | |
| ENST00000230381.6:c.548_551dup | ENSP00000230381.5:p.Tyr184Ter | |
| NM_000322.4:c.548_551dup | NP_000313.2:p.Tyr184Ter | |
| XR_427834.2:n.1203_1206dup | ||
| XR_926295.1:n.1203_1206dup | ||
| XR_427834.4:n.1253_1256dup | ||
| XR_926295.3:n.1253_1256dup | ||
| NM_000322.5:c.548_551dup MANE Select | NP_000313.2:p.Tyr184Ter |