Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204156341_204156364dup , CM000663.2:g.204156341_204156364dup | GRCh38 |
| NC_000001.10:g.204125469_204125492dup , CM000663.1:g.204125469_204125492dup | GRCh37 |
| NC_000001.9:g.202392092_202392115dup | NCBI36 |
| NG_012122.1:g.14978_15001dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272190.9:c.819-41_819-18dup MANE Select | ENSP00000272190.8:n.819-41_819-18dup | |
| ENST00000638118.1:c.705-41_705-18dup | ENSP00000490307.1:n.705-41_705-18dup | |
| ENST00000272190.8:c.819-41_819-18dup | ENSP00000272190.8:n.819-41_819-18dup | |
| NM_000537.3:c.819-41_819-18dup | NP_000528.1:n.819-41_819-18dup | |
| NM_000537.4:c.819-41_819-18dup MANE Select | NP_000528.1:n.819-41_819-18dup |