Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154969396_154969397delinsGC , CM000685.2:g.154969396_154969397delinsGC | GRCh38 |
| NC_000023.10:g.154197671_154197672delinsGC , CM000685.1:g.154197671_154197672delinsGC | GRCh37 |
| NC_000023.9:g.153850865_153850866delinsGC | NCBI36 |
| NG_011403.1:g.58327_58328delinsGC | |
| NG_011403.2:g.58327_58328delinsGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.943_944delinsGC MANE Select | ENSP00000353393.4:p.Ala315= | |
| ENST00000647125.1:c.*819_*820delinsGC | ENSP00000496062.1:n.*819_*820delinsGC | |
| ENST00000360256.8:c.943_944delinsGC | ENSP00000353393.4:p.Ala315= | |
| NM_000132.3:c.943_944delinsGC | NP_000123.1:p.Ala315= | |
| XM_011531126.1:c.838_839delinsGC | XP_011529428.1:p.Ala280= | |
| NM_000132.4:c.943_944delinsGC MANE Select | NP_000123.1:p.Ala315= |