Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215648703_215648704insGA , CM000663.2:g.215648703_215648704insGA | GRCh38 |
| NC_000001.10:g.215822045_215822046insGA , CM000663.1:g.215822045_215822046insGA | GRCh37 |
| NC_000001.9:g.213888668_213888669insGA | NCBI36 |
| NG_009497.1:g.779693_779694insTC | |
| NG_009497.2:g.779745_779746insTC |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_206933.4:c.14406_14407insTC MANE Select | NP_996816.3:p.Ile4803SerfsTer4 |
| ENST00000307340.8:c.14406_14407insTC MANE Select | ENSP00000305941.3:p.Ile4803SerfsTer4 |
| NM_206933.2:c.14406_14407insTC | NP_996816.2:p.Ile4803SerfsTer4 |
| NM_206933.3:c.14406_14407insTC | NP_996816.2:p.Ile4803SerfsTer4 |
| ENST00000307340.7:c.14406_14407insTC | ENSP00000305941.3:p.Ile4803SerfsTer4 |
| ENST00000674083.1:c.14406_14407insTC | ENSP00000501296.1:p.Ile4803SerfsTer4 |