Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154953963_154953965del , CM000685.2:g.154953963_154953965del | GRCh38 |
| NC_000023.10:g.154182238_154182240del , CM000685.1:g.154182238_154182240del | GRCh37 |
| NC_000023.9:g.153835432_153835434del | NCBI36 |
| NG_011403.1:g.73761_73763del | |
| NG_011403.2:g.73761_73763del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1832_1834del MANE Select | ENSP00000353393.4:p.Gln611del | |
| ENST00000647125.1:c.*1708_*1710del | ENSP00000496062.1:n.*1708_*1710del | |
| ENST00000360256.8:c.1832_1834del | ENSP00000353393.4:p.Gln611del | |
| NM_000132.3:c.1832_1834del | NP_000123.1:p.Gln611del | |
| XM_011531126.1:c.1727_1729del | XP_011529428.1:p.Gln576del | |
| NM_000132.4:c.1832_1834del MANE Select | NP_000123.1:p.Gln611del |