Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188989407_188989424del , CM000664.2:g.188989407_188989424del | GRCh38 |
| NC_000002.11:g.189854133_189854150del , CM000664.1:g.189854133_189854150del | GRCh37 |
| NC_000002.10:g.189562378_189562395del | NCBI36 |
| NG_007404.1:g.20035_20052del , LRG_3:g.20035_20052del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.648_665del | ENSP00000415346.2:p.Pro217_Gly222del | |
| ENST00000304636.9:c.648_665del MANE Select | ENSP00000304408.4:p.Pro217_Gly222del | |
| ENST00000304636.7:c.648_665del | ENSP00000304408.3:p.Pro217_Gly222del | |
| ENST00000317840.9:c.648_665del | ENSP00000315243.6:p.Pro217_Gly222del | |
| NM_000090.3:c.648_665del , LRG_3t1:c.648_665del | NP_000081.1:p.Pro217_Gly222del | |
| NM_000090.4:c.648_665del MANE Select | NP_000081.2:p.Pro217_Gly222del |