Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12717854_12717855dup , CM000674.2:g.12717854_12717855dup | GRCh38 |
| NC_000012.11:g.12870788_12870789dup , CM000674.1:g.12870788_12870789dup | GRCh37 |
| NC_000012.10:g.12762055_12762056dup | NCBI36 |
| NG_016341.1:g.5487_5488dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614874.2:c.15_16dup | ENSP00000507272.1:p.Val6GlufsTer? | |
| ENST00000682620.1:n.1631-971_1631-970dup | ||
| ENST00000684771.1:n.585-971_585-970dup | ||
| ENST00000228872.9:c.15_16dup MANE Select | ENSP00000228872.4:p.Val6GlufsTer? | |
| ENST00000228872.8:c.15_16dup | ENSP00000228872.4:p.Val6GlufsTer? | |
| ENST00000396340.1:c.15_16dup | ENSP00000379629.1:p.Val6GlufsTer? | |
| ENST00000477087.1:n.155-971_155-970dup | ||
| NM_004064.4:c.15_16dup | NP_004055.1:p.Val6GlufsTer? | |
| NM_004064.5:c.15_16dup MANE Select | NP_004055.1:p.Val6GlufsTer? |