Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25004895_25004997dup , CM000685.2:g.25004895_25004997dup | GRCh38 |
| NC_000023.10:g.25023012_25023114dup , CM000685.1:g.25023012_25023114dup | GRCh37 |
| NC_000023.9:g.24932933_24933035dup | NCBI36 |
| NG_008281.1:g.15957_16059dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_139058.2:c.1449-82_1469dup | |
| NM_139058.3:c.1449-82_1469dup | |
| ENST00000379044.4:c.1449-82_1469dup | |
| ENST00000379044.5:c.1449-82_1469dup | |
| ENST00000636885.1:n.37-82_57dup |