Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.121447001_121447003dup , CM000668.2:g.121447001_121447003dup | GRCh38 |
| NC_000006.11:g.121768147_121768149dup , CM000668.1:g.121768147_121768149dup | GRCh37 |
| NC_000006.10:g.121809846_121809848dup | NCBI36 |
| NG_008308.1:g.16403_16405dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000165.5:c.154_156dup MANE Select | NP_000156.1:p.Phe52_Arg53insPhe |
| ENST00000282561.4:c.154_156dup MANE Select | ENSP00000282561.3:p.Phe52_Arg53insPhe |
| NM_000165.4:c.154_156dup | NP_000156.1:p.Phe52_Arg53insPhe |
| ENST00000282561.3:c.154_156dup | ENSP00000282561.3:p.Phe52_Arg53insPhe |
| ENST00000647564.1:c.154_156dup | ENSP00000497565.1:p.Phe52_Arg53insPhe |
| ENST00000649003.1:c.154_156dup | ENSP00000497283.1:p.Phe52_Arg53insPhe |
| ENST00000650427.1:c.154_156dup | ENSP00000497367.1:p.Phe52_Arg53insPhe |