gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20638074del , CM000663.2:g.20638074del | GRCh38 |
| NC_000001.10:g.20964567del , CM000663.1:g.20964567del | GRCh37 |
| NC_000001.9:g.20837154del | NCBI36 |
| NG_008164.1:g.9620del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321556.5:c.620del MANE Select | ENSP00000364204.3:p.Arg207GlnfsTer14 | |
| ENST00000321556.4:c.620del | ENSP00000364204.3:p.Arg207GlnfsTer14 | |
| NM_032409.2:c.620del | NP_115785.1:p.Arg207GlnfsTer14 | |
| NM_032409.3:c.620del MANE Select | NP_115785.1:p.Arg207GlnfsTer14 |