Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10656460dup , CM000682.2:g.10656460dup | GRCh38 |
| NC_000020.10:g.10637108dup , CM000682.1:g.10637108dup | GRCh37 |
| NC_000020.9:g.10585108dup | NCBI36 |
| NG_007496.1:g.22587dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.695-2dup MANE Select | ENSP00000254958.4:n.695-2dup | |
| ENST00000254958.9:c.695-2dup | ENSP00000254958.4:n.695-2dup | |
| ENST00000423891.6:n.561-2dup | ||
| NM_000214.2:c.695-2dup | NP_000205.1:n.695-2dup | |
| NM_000214.3:c.695-2dup MANE Select | NP_000205.1:n.695-2dup |