Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225639_5225649del , CM000673.2:g.5225639_5225649del | GRCh38 |
| NC_000011.9:g.5246869_5246879del , CM000673.1:g.5246869_5246879del | GRCh37 |
| NC_000011.8:g.5203445_5203455del | NCBI36 |
| NG_000007.3:g.71968_71978del | |
| NG_059281.1:g.6424_6434del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.394_404del | ENSP00000494175.1:p.Gln132GlyfsTer5 | |
| ENST00000335295.4:c.394_404del MANE Select | ENSP00000333994.3:p.Gln132GlyfsTer5 | |
| ENST00000633227.1:c.*210_*220del | ENSP00000488004.1:n.*210_*220del | |
| NM_000518.4:c.394_404del | NP_000509.1:p.Gln132GlyfsTer5 | |
| NM_000518.5:c.394_404del MANE Select | NP_000509.1:p.Gln132GlyfsTer5 |