Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215640810_215640812dup , CM000663.2:g.215640810_215640812dup | GRCh38 |
| NC_000001.10:g.215814152_215814154dup , CM000663.1:g.215814152_215814154dup | GRCh37 |
| NC_000001.9:g.213880775_213880777dup | NCBI36 |
| NG_009497.1:g.787594_787596dup | |
| NG_009497.2:g.787646_787648dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.14792-69_14792-67dup MANE Select | ENSP00000305941.3:n.14792-69_14792-67dup | |
| ENST00000674083.1:c.14792-69_14792-67dup | ENSP00000501296.1:n.14792-69_14792-67dup | |
| ENST00000307340.7:c.14792-69_14792-67dup | ENSP00000305941.3:n.14792-69_14792-67dup | |
| NM_206933.2:c.14792-69_14792-67dup | NP_996816.2:n.14792-69_14792-67dup | |
| NM_206933.3:c.14792-69_14792-67dup | NP_996816.2:n.14792-69_14792-67dup | |
| NM_206933.4:c.14792-69_14792-67dup MANE Select | NP_996816.3:n.14792-69_14792-67dup |