Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56902509dup , CM000678.2:g.56902509dup | GRCh38 |
| NC_000016.9:g.56936421dup , CM000678.1:g.56936421dup | GRCh37 |
| NC_000016.8:g.55493922dup | NCBI36 |
| NG_009386.1:g.42303dup | |
| NG_009386.2:g.42303dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000563236.6:c.2856+1dup | ||
| ENST00000262502.5:c.2853+1dup | ||
| ENST00000438926.6:c.2883+1dup | ||
| ENST00000563236.5:c.2856+1dup | ||
| ENST00000566786.5:c.2880+1dup | ||
| ENST00000569002.1:n.287+1dup | ||
| NM_000339.2:c.2883+1dup | ||
| NM_001126107.1:c.2880+1dup | ||
| NM_001126108.1:c.2856+1dup | ||
| XM_005256119.1:c.2853+1dup | ||
| XM_005256119.2:c.2853+1dup | ||
| NM_000339.3:c.2883+1dup | ||
| NM_001126107.2:c.2880+1dup | ||
| NM_001126108.2:c.2856+1dup |