Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204156361_204156364del , CM000663.2:g.204156361_204156364del | GRCh38 |
| NC_000001.10:g.204125489_204125492del , CM000663.1:g.204125489_204125492del | GRCh37 |
| NC_000001.9:g.202392112_202392115del | NCBI36 |
| NG_012122.1:g.14998_15001del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272190.9:c.819-21_819-18del MANE Select | ENSP00000272190.8:n.819-21_819-18del | |
| ENST00000638118.1:c.705-21_705-18del | ENSP00000490307.1:n.705-21_705-18del | |
| ENST00000272190.8:c.819-21_819-18del | ENSP00000272190.8:n.819-21_819-18del | |
| NM_000537.3:c.819-21_819-18del | NP_000528.1:n.819-21_819-18del | |
| NM_000537.4:c.819-21_819-18del MANE Select | NP_000528.1:n.819-21_819-18del |