Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215779833dup , CM000663.2:g.215779833dup | GRCh38 |
| NC_000001.10:g.215953175dup , CM000663.1:g.215953175dup | GRCh37 |
| NC_000001.9:g.214019798dup | NCBI36 |
| NG_009497.1:g.648564dup | |
| NG_009497.2:g.648616dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_206933.4:c.10939+10dup MANE Select | NP_996816.3:n.10939+10dup |
| ENST00000307340.8:c.10939+10dup MANE Select | ENSP00000305941.3:n.10939+10dup |
| NM_206933.2:c.10939+10dup | NP_996816.2:n.10939+10dup |
| NM_206933.3:c.10939+10dup | NP_996816.2:n.10939+10dup |
| ENST00000307340.7:c.10939+10dup | ENSP00000305941.3:n.10939+10dup |
| ENST00000674083.1:c.10939+10dup | ENSP00000501296.1:n.10939+10dup |