Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.87612555_87612556insC , CM000666.2:g.87612555_87612556insC | GRCh38 |
| NC_000004.11:g.88533707_88533708insC , CM000666.1:g.88533707_88533708insC | GRCh37 |
| NC_000004.10:g.88752731_88752732insC | NCBI36 |
| NG_011595.1:g.9027_9028insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651931.1:c.369_370insC MANE Select | ENSP00000498766.1:p.Ile124HisfsTer21 | |
| ENST00000282478.7:c.369_370insC | ENSP00000282478.7:p.Ile124HisfsTer21 | |
| ENST00000399271.5:c.369_370insC | ENSP00000382213.1:p.Ile124HisfsTer21 | |
| NM_014208.3:c.369_370insC MANE Select | NP_055023.2:p.Ile124HisfsTer21 |