Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41869215dup , CM000681.2:g.41869215dup | GRCh38 |
| NC_000019.9:g.42373285dup , CM000681.1:g.42373285dup | GRCh37 |
| NC_000019.8:g.47065125dup | NCBI36 |
| NG_007080.2:g.14298dup | |
| NG_007080.3:g.14298dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000598742.6:c.356+1dup | ||
| ENST00000600467.6:c.356+1dup | ||
| ENST00000221975.6:c.134+1dup | ||
| ENST00000593863.5:c.356+1dup | ||
| ENST00000598742.5:c.356+1dup | ||
| NM_001022.3:c.356+1dup | ||
| NM_001321483.1:c.356+1dup | ||
| NM_001321484.1:c.356+1dup | ||
| NM_001321485.1:c.369+1dup | ||
| XM_017027113.2:c.356+1dup | ||
| NM_001022.4:c.356+1dup | ||
| NM_001321483.2:c.356+1dup | ||
| NM_001321484.2:c.356+1dup | ||
| NM_001321485.2:c.369+1dup |