Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19957573_19957574delinsTC , CM000670.2:g.19957573_19957574delinsTC | GRCh38 |
| NC_000008.10:g.19815084_19815085delinsTC , CM000670.1:g.19815084_19815085delinsTC | GRCh37 |
| NC_000008.9:g.19859364_19859365delinsTC | NCBI36 |
| NG_008855.1:g.23503_23504delinsTC | |
| NG_008855.2:g.60857_60858delinsTC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.1018+1490_1018+1491delinsTC MANE Select | ENSP00000497642.1:n.1018+1490_1018+1491de... | |
| ENST00000650478.1:c.79+1490_79+1491delinsTC | ENSP00000497560.1:n.79+1490_79+1491delins... | |
| ENST00000311322.8:c.1018+1490_1018+1491delinsTC | ENSP00000309757.6:n.1018+1490_1018+1491de... | |
| NM_000237.2:c.1018+1490_1018+1491delinsTC | NP_000228.1:n.1018+1490_1018+1491delinsTC... | |
| NM_000237.3:c.1018+1490_1018+1491delinsTC MANE Select | NP_000228.1:n.1018+1490_1018+1491delinsTC... |