Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73329539dup , CM000677.2:g.73329539dup | GRCh38 |
| NC_000015.9:g.73621880dup , CM000677.1:g.73621880dup | GRCh37 |
| NC_000015.8:g.71408933dup | NCBI36 |
| NG_009063.1:g.44728dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.1590+36dup MANE Select | ENSP00000261917.3:n.1590+36dup | |
| ENST00000261917.3:c.1590+36dup | ENSP00000261917.3:n.1590+36dup | |
| NM_005477.2:c.1590+36dup | NP_005468.1:n.1590+36dup | |
| XM_011521148.1:c.372+36dup | XP_011519450.1:n.372+36dup | |
| XM_011521148.2:c.372+36dup | XP_011519450.1:n.372+36dup | |
| NM_005477.3:c.1590+36dup MANE Select | NP_005468.1:n.1590+36dup |