Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.93002272_93002275del , CM000677.2:g.93002272_93002275del | GRCh38 |
| NC_000015.9:g.93545502_93545505del , CM000677.1:g.93545502_93545505del | GRCh37 |
| NC_000015.8:g.91346506_91346509del | NCBI36 |
| NG_012826.1:g.106952_106955del | |
| NG_012826.2:g.106952_106955del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001271.4:c.4233_4236del MANE Select | NP_001262.3:p.Glu1412GlyfsTer? |
| ENST00000394196.9:c.4233_4236del MANE Select | ENSP00000377747.4:p.Glu1412GlyfsTer? |
| NM_001271.3:c.4233_4236del | NP_001262.3:p.Glu1412GlyfsTer? |
| ENST00000394196.8:c.4233_4236del | ENSP00000377747.4:p.Glu1412GlyfsTer? |
| ENST00000625662.2:c.636_639del | |
| ENST00000625662.3:c.3853_3856del | |
| ENST00000626874.2:c.4233_4236del | ENSP00000486629.1:p.Glu1412GlyfsTer? |
| ENST00000629104.1:c.574_577del | ENSP00000485681.1:n.574_577del |