Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153740581_153740582del , CM000685.2:g.153740581_153740582del | GRCh38 |
| NC_000023.10:g.153006035_153006036del , CM000685.1:g.153006035_153006036del | GRCh37 |
| NC_000023.9:g.152659229_152659230del | NCBI36 |
| NG_009022.2:g.20714_20715del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1642_1643del MANE Select | ENSP00000218104.3:p.Met548ValfsTer7 | |
| ENST00000218104.5:c.1642_1643del | ENSP00000218104.3:p.Met548ValfsTer7 | |
| ENST00000443684.2:n.645_646del | ||
| NM_000033.3:c.1642_1643del | NP_000024.2:p.Met548ValfsTer7 | |
| XR_938507.1:n.2114_2115del | ||
| XR_938507.2:n.2114_2115del | ||
| NM_000033.4:c.1642_1643del MANE Select | NP_000024.2:p.Met548ValfsTer7 |