Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1014319dup , CM000663.2:g.1014319dup | GRCh38 |
| NC_000001.10:g.949699dup , CM000663.1:g.949699dup | GRCh37 |
| NC_000001.9:g.939562dup | NCBI36 |
| NG_033033.1:g.5853dup | |
| NG_033033.2:g.18182dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000624697.4:c.315dup | ENSP00000485643.1:p.Leu106AlafsTer? | |
| ENST00000649529.1:c.339dup MANE Select | ENSP00000496832.1:p.Leu114AlafsTer? | |
| ENST00000379389.4:c.339dup | ENSP00000368699.4:p.Leu114AlafsTer? | |
| ENST00000624652.1:c.315dup | ENSP00000485313.1:p.Leu106AlafsTer? | |
| ENST00000624697.3:c.315dup | ENSP00000485643.1:p.Leu106AlafsTer? | |
| NM_005101.3:c.339dup | NP_005092.1:p.Leu114AlafsTer? | |
| NM_005101.4:c.339dup MANE Select | NP_005092.1:p.Leu114AlafsTer? |