Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154969391_154969394del , CM000685.2:g.154969391_154969394del | GRCh38 |
| NC_000023.10:g.154197666_154197669del , CM000685.1:g.154197666_154197669del | GRCh37 |
| NC_000023.9:g.153850860_153850863del | NCBI36 |
| NG_011403.1:g.58332_58335del | |
| NG_011403.2:g.58332_58335del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.948_951del MANE Select | ENSP00000353393.4:p.Gln316HisfsTer3 | |
| ENST00000647125.1:c.*824_*827del | ENSP00000496062.1:n.*824_*827del | |
| ENST00000360256.8:c.948_951del | ENSP00000353393.4:p.Gln316HisfsTer3 | |
| NM_000132.3:c.948_951del | NP_000123.1:p.Gln316HisfsTer3 | |
| XM_011531126.1:c.843_846del | XP_011529428.1:p.Gln281HisfsTer3 | |
| NM_000132.4:c.948_951del MANE Select | NP_000123.1:p.Gln316HisfsTer3 |