Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.56249735_56249736delinsTC , CM000682.2:g.56249735_56249736delinsTC | GRCh38 |
| NC_000020.10:g.54824791_54824792delinsTC , CM000682.1:g.54824791_54824792delinsTC | GRCh37 |
| NC_000020.9:g.54258198_54258199delinsTC | NCBI36 |
| NG_012200.1:g.6004_6005delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019888.3:c.892_893delinsTC MANE Select | NP_063941.3:p.Ile298Ser |
| ENST00000243911.2:c.892_893delinsTC MANE Select | ENSP00000243911.2:p.Ile298Ser |