Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27751038dup , CM000684.2:g.27751038dup | GRCh38 |
| NC_000022.10:g.28147026dup , CM000684.1:g.28147026dup | GRCh37 |
| NC_000022.9:g.26477026dup | NCBI36 |
| NG_023258.1:g.55462dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703102.1:n.366dup | ||
| ENST00000302326.5:c.3841dup MANE Select | ENSP00000304956.4:p.Leu1281ProfsTer11 | |
| ENST00000302326.4:c.3841dup | ENSP00000304956.4:p.Leu1281ProfsTer11 | |
| ENST00000424656.1:c.194dup | ||
| ENST00000497225.1:n.197dup | ||
| NM_002430.2:c.3841dup | NP_002421.3:p.Leu1281ProfsTer11 | |
| NM_002430.3:c.3841dup MANE Select | NP_002421.3:p.Leu1281ProfsTer11 |