Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27751000_27751009dup , CM000684.2:g.27751000_27751009dup | GRCh38 |
| NC_000022.10:g.28146988_28146997dup , CM000684.1:g.28146988_28146997dup | GRCh37 |
| NC_000022.9:g.26476988_26476997dup | NCBI36 |
| NG_023258.1:g.55491_55500dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002430.3:c.3870_3879dup MANE Select | NP_002421.3:p.Ala1294Ter |
| ENST00000302326.5:c.3870_3879dup MANE Select | ENSP00000304956.4:p.Ala1294Ter |
| NM_002430.2:c.3870_3879dup | NP_002421.3:p.Ala1294Ter |
| ENST00000302326.4:c.3870_3879dup | ENSP00000304956.4:p.Ala1294Ter |
| ENST00000424656.1:c.223_232dup | |
| ENST00000497225.1:n.226_235dup | |
| ENST00000703102.1:n.395_404dup |