Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215674354_215674355delinsCA , CM000663.2:g.215674354_215674355delinsCA | GRCh38 |
| NC_000001.10:g.215847696_215847697delinsCA , CM000663.1:g.215847696_215847697delinsCA | GRCh37 |
| NC_000001.9:g.213914319_213914320delinsCA | NCBI36 |
| NG_009497.1:g.754042_754043delinsTG | |
| NG_009497.2:g.754094_754095delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.13556_13557delinsTG MANE Select | ENSP00000305941.3:p.Leu4519= | |
| ENST00000674083.1:c.13556_13557delinsTG | ENSP00000501296.1:p.Leu4519= | |
| ENST00000307340.7:c.13556_13557delinsTG | ENSP00000305941.3:p.Leu4519= | |
| NM_206933.2:c.13556_13557delinsTG | NP_996816.2:p.Leu4519= | |
| NM_206933.3:c.13556_13557delinsTG | NP_996816.2:p.Leu4519= | |
| NM_206933.4:c.13556_13557delinsTG MANE Select | NP_996816.3:p.Leu4519= |