Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8076314dup , CM000679.2:g.8076314dup | GRCh38 |
| NC_000017.10:g.7979632dup , CM000679.1:g.7979632dup | GRCh37 |
| NC_000017.9:g.7920357dup | NCBI36 |
| NG_007099.1:g.16393dup | |
| NG_007099.2:g.16406dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647874.1:c.1396dup MANE Select | ENSP00000497784.1:p.Val466GlyfsTer12 | |
| ENST00000649809.1:c.460dup | ENSP00000496845.1:p.Val154GlyfsTer12 | |
| ENST00000319144.4:c.1396dup | ENSP00000315167.4:p.Val466GlyfsTer12 | |
| ENST00000577351.5:n.343dup | ||
| ENST00000583276.5:n.780dup | ||
| ENST00000584116.1:n.652dup | ||
| NM_001139.2:c.1396dup | NP_001130.1:p.Val466GlyfsTer12 | |
| NM_001139.3:c.1396dup MANE Select | NP_001130.1:p.Val466GlyfsTer12 |