Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86038746_86038748del , CM000664.2:g.86038746_86038748del | GRCh38 |
| NC_000002.11:g.86265869_86265871del , CM000664.1:g.86265869_86265871del | GRCh37 |
| NC_000002.10:g.86119380_86119382del | NCBI36 |
| NG_050742.2:g.72410_72412del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263857.11:c.3988_3990del MANE Select | ENSP00000263857.6:p.Glu1330del | |
| ENST00000263857.10:c.3988_3990del | ENSP00000263857.6:p.Glu1330del | |
| ENST00000409681.1:c.3988_3990del | ENSP00000386300.1:p.Glu1330del | |
| ENST00000492034.1:n.172_174del | ||
| NM_015425.3:c.3988_3990del | NP_056240.2:p.Glu1330del | |
| XM_006711983.2:c.3664_3666del | XP_006712046.1:p.Glu1222del | |
| NM_015425.5:c.3988_3990del | NP_056240.2:p.Glu1330del | |
| NM_015425.6:c.3988_3990del MANE Select | NP_056240.2:p.Glu1330del |