Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23118694_23118705del , CM000676.2:g.23118694_23118705del | GRCh38 |
| NC_000014.8:g.23587903_23587914del , CM000676.1:g.23587903_23587914del | GRCh37 |
| NC_000014.7:g.22657743_22657754del | NCBI36 |
| NG_009617.1:g.5569_5580del , LRG_45:g.5569_5580del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001805.4:c.395_406del MANE Select | NP_001796.2:p.Ala132_Arg135del |
| ENST00000206513.6:c.395_406del MANE Select | ENSP00000206513.5:p.Ala132_Arg135del |
| NM_001805.3:c.395_406del | NP_001796.2:p.Ala132_Arg135del |
| ENST00000206513.5:c.395_406del | ENSP00000206513.5:p.Ala132_Arg135del |
| ENST00000696121.1:n.364_375del | |
| ENST00000696122.1:n.141_152del | |
| XM_011536359.1:c.350_361del | XP_011534661.1:p.Ala117_Arg120del |