Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965565_37966075del , CM000670.2:g.37965565_37966075del | GRCh38 |
| NC_000008.10:g.37823083_37823593del , CM000670.1:g.37823083_37823593del | GRCh37 |
| NC_000008.9:g.37942240_37942750del | NCBI36 |
| NG_011936.1:g.5592_6102del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000025.3:c.395_905del MANE Select | NP_000016.1:p.Ala132ValfsTer21 |
| ENST00000345060.5:c.395_905del MANE Select | ENSP00000343782.3:p.Ala132ValfsTer21 |
| NM_000025.2:c.395_905del | NP_000016.1:p.Ala132ValfsTer21 |
| ENST00000345060.4:c.395_905del | ENSP00000343782.3:p.Ala132ValfsTer21 |
| ENST00000520341.2:n.523_1033del | |
| ENST00000614635.1:c.395_905del | ENSP00000480325.1:p.Ala132ValfsTer21 |