Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24256073_24256074insC , CM000676.2:g.24256073_24256074insC | GRCh38 |
| NC_000014.8:g.24725279_24725280insC , CM000676.1:g.24725279_24725280insC | GRCh37 |
| NC_000014.7:g.23795119_23795120insC | NCBI36 |
| NG_007150.1:g.12093_12094insG | |
| NG_007150.2:g.12093_12094insG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000206765.11:c.1406_1407insG MANE Select | ENSP00000206765.6:p.Ile469MetfsTer29 | |
| ENST00000206765.10:c.1406_1407insG | ENSP00000206765.6:p.Ile469MetfsTer29 | |
| ENST00000544573.5:c.80_81insG | ENSP00000439446.1:p.Ile27MetfsTer29 | |
| ENST00000559136.1:c.479_480insG | ENSP00000453337.1:p.Ile160MetfsTer29 | |
| NM_000359.2:c.1406_1407insG | NP_000350.1:p.Ile469MetfsTer29 | |
| NM_000359.3:c.1406_1407insG MANE Select | NP_000350.1:p.Ile469MetfsTer29 |