Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4898411_4898414dup , CM000679.2:g.4898411_4898414dup | GRCh38 |
| NC_000017.10:g.4801706_4801709dup , CM000679.1:g.4801706_4801709dup | GRCh37 |
| NC_000017.9:g.4742485_4742488dup | NCBI36 |
| NG_008029.2:g.9670_9673dup | |
| NG_028005.1:g.70072_70075dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.*330_*333dup MANE Select | ENSP00000497829.1:n.*330_*333dup | |
| ENST00000649830.1:c.*448_*451dup | ENSP00000496907.1:n.*448_*451dup | |
| ENST00000652550.1:n.1538_1541dup | ||
| ENST00000293780.4:c.*330_*333dup | ENSP00000293780.4:n.*330_*333dup | |
| ENST00000572438.1:n.1498_1501dup | ||
| NM_000080.3:c.*330_*333dup | NP_000071.1:n.*330_*333dup | |
| NM_000080.4:c.*330_*333dup MANE Select | NP_000071.1:n.*330_*333dup | |
| XM_017024115.1:c.*330_*333dup | XP_016879604.1:n.*330_*333dup |