Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10652637_10652638dup , CM000682.2:g.10652637_10652638dup | GRCh38 |
| NC_000020.10:g.10633285_10633286dup , CM000682.1:g.10633285_10633286dup | GRCh37 |
| NC_000020.9:g.10581285_10581286dup | NCBI36 |
| NG_007496.1:g.26409_26410dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.756-40_756-39dup MANE Select | ENSP00000254958.4:n.756-40_756-39dup | |
| ENST00000617965.2:n.85_86dup | ||
| ENST00000254958.9:c.756-40_756-39dup | ENSP00000254958.4:n.756-40_756-39dup | |
| ENST00000423891.6:n.622-40_622-39dup | ||
| ENST00000617965.1:n.85_86dup | ||
| NM_000214.2:c.756-40_756-39dup | NP_000205.1:n.756-40_756-39dup | |
| NM_000214.3:c.756-40_756-39dup MANE Select | NP_000205.1:n.756-40_756-39dup |