Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7513800_7513802del , CM000679.2:g.7513800_7513802del | GRCh38 |
| NC_000017.10:g.7417117_7417119del , CM000679.1:g.7417117_7417119del | GRCh37 |
| NC_000017.9:g.7357841_7357843del | NCBI36 |
| NG_027747.1:g.34420_34422del | |
| NG_027747.2:g.34420_34422del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000937.5:c.5534_5536del MANE Select | NP_000928.1:p.Ser1845del |
| NM_000937.4:c.5534_5536del | NP_000928.1:p.Ser1845del |
| ENST00000617998.4:c.5536_5538del | ENSP00000480158.1:p.Leu1846del |
| ENST00000617998.6:n.5935_5937del | |
| ENST00000621442.4:c.5534_5536del | ENSP00000483957.1:p.Ser1845del |
| ENST00000674977.2:c.5534_5536del | ENSP00000502190.2:p.Ser1845del |