Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204159468del , CM000663.2:g.204159468del | GRCh38 |
| NC_000001.10:g.204128596del , CM000663.1:g.204128596del | GRCh37 |
| NC_000001.9:g.202395219del | NCBI36 |
| NG_012122.1:g.11873del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272190.9:c.623del MANE Select | ENSP00000272190.8:p.Pro208LeufsTer12 | |
| ENST00000638118.1:c.509del | ENSP00000490307.1:p.Pro170LeufsTer12 | |
| ENST00000272190.8:c.623del | ENSP00000272190.8:p.Pro208LeufsTer12 | |
| NM_000537.3:c.623del | NP_000528.1:p.Pro208LeufsTer12 | |
| NM_000537.4:c.623del MANE Select | NP_000528.1:p.Pro208LeufsTer12 |