Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7508383_7508385del , CM000679.2:g.7508383_7508385del | GRCh38 |
| NC_000017.10:g.7411702_7411704del , CM000679.1:g.7411702_7411704del | GRCh37 |
| NC_000017.9:g.7352426_7352428del | NCBI36 |
| NG_027747.1:g.29005_29007del | |
| NG_027747.2:g.29005_29007del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000937.5:c.3373_3375del MANE Select | NP_000928.1:p.Lys1125del |
| NM_000937.4:c.3373_3375del | NP_000928.1:p.Lys1125del |
| ENST00000617998.4:c.3373_3375del | ENSP00000480158.1:p.Lys1125del |
| ENST00000617998.6:n.3772_3774del | |
| ENST00000621442.4:c.3373_3375del | ENSP00000483957.1:p.Lys1125del |
| ENST00000674977.2:c.3373_3375del | ENSP00000502190.2:p.Lys1125del |