Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94852576_94852577insTTTT , CM000672.2:g.94852576_94852577insTTTT | GRCh38 |
| NC_000010.10:g.96612333_96612334insTTTT , CM000672.1:g.96612333_96612334insTTTT | GRCh37 |
| NC_000010.9:g.96602323_96602324insTTTT | NCBI36 |
| NG_008384.2:g.94871_94872insTTTT | |
| NG_008384.3:g.94896_94897insTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.1292-157_1292-156insTTTT MANE Select | ENSP00000360372.3:n.1292-157_1292-156insTTTT | |
| ENST00000645461.1:n.2203-157_2203-156insTTTT | ||
| ENST00000371321.7:c.1292-157_1292-156insTTTT | ENSP00000360372.3:n.1292-157_1292-156insTTTT | |
| ENST00000464755.1:c.2055-157_2055-156insTTTT | ENSP00000483243.1:n.2055-157_2055-156insTTTT | |
| NM_000769.2:c.1292-157_1292-156insTTTT | NP_000760.1:n.1292-157_1292-156insTTTT | |
| NM_000769.4:c.1292-157_1292-156insTTTT MANE Select | NP_000760.1:n.1292-157_1292-156insTTTT |