Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215573814_215577701dup , CM000663.2:g.215573814_215577701dup | GRCh38 |
| NC_000001.10:g.215747157_215751044dup , CM000663.1:g.215747157_215751044dup | GRCh37 |
| NC_000001.9:g.213813780_213817667dup | NCBI36 |
| NG_047148.1:g.11630_15517dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259154.9:c.112_289dup | ||
| ENST00000259154.8:c.112_289dup | ||
| ENST00000448333.1:c.29_206dup | ||
| NM_016121.3:c.112_289dup | ||
| XM_005273156.1:c.112_289dup | ||
| XM_005273158.1:c.-267_-90dup | ||
| NM_001319294.1:c.112_289dup | ||
| NM_001319295.1:c.-267_-90dup | ||
| NM_016121.4:c.112_289dup | ||
| XM_005273158.2:c.-267_-90dup | ||
| NM_016121.5:c.112_289dup | ||
| NM_001319294.2:c.112_289dup | ||
| NM_001319295.2:c.-267_-90dup |