Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183236544_183236545del , CM000663.2:g.183236544_183236545del | GRCh38 |
| NC_000001.10:g.183205679_183205680del , CM000663.1:g.183205679_183205680del | GRCh37 |
| NC_000001.9:g.181472302_181472303del | NCBI36 |
| NG_007079.2:g.55281_55282del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264144.5:c.2541_2542del MANE Select | ENSP00000264144.4:p.His847GlnfsTer16 | |
| ENST00000264144.4:c.2541_2542del | ENSP00000264144.4:p.His847GlnfsTer16 | |
| ENST00000493293.5:c.2541_2542del | ENSP00000432063.1:p.His847GlnfsTer16 | |
| NM_005562.2:c.2541_2542del | NP_005553.2:p.His847GlnfsTer16 | |
| NM_018891.2:c.2541_2542del | NP_061486.2:p.His847GlnfsTer16 | |
| NM_005562.3:c.2541_2542del MANE Select | NP_005553.2:p.His847GlnfsTer16 | |
| NM_018891.3:c.2541_2542del | NP_061486.2:p.His847GlnfsTer16 |