Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30308226_30308227insT , CM000685.2:g.30308226_30308227insT | GRCh38 |
| NC_000023.10:g.30326343_30326344insT , CM000685.1:g.30326343_30326344insT | GRCh37 |
| NC_000023.9:g.30236264_30236265insT | NCBI36 |
| NG_009814.1:g.6152_6153insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378970.5:c.1137_1138insA MANE Select | ENSP00000368253.4:p.Tyr380IlefsTer9 | |
| ENST00000378963.1:c.252_253insA | ENSP00000368246.1:p.Tyr85IlefsTer9 | |
| ENST00000378970.4:c.1137_1138insA | ENSP00000368253.4:p.Tyr380IlefsTer9 | |
| NM_000475.4:c.1137_1138insA | NP_000466.2:p.Tyr380IlefsTer9 | |
| NM_000475.5:c.1137_1138insA MANE Select | NP_000466.2:p.Tyr380IlefsTer9 |