Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94775145_94775146insTTAA , CM000672.2:g.94775145_94775146insTTAA | GRCh38 |
| NC_000010.10:g.96534902_96534903insTTAA , CM000672.1:g.96534902_96534903insTTAA | GRCh37 |
| NC_000010.9:g.96524892_96524893insTTAA | NCBI36 |
| NG_008384.2:g.17440_17441insTTAA | |
| NG_008384.3:g.17465_17466insTTAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.256_257insTTAA MANE Select | ENSP00000360372.3:p.Ala86ValfsTer5 | |
| ENST00000645461.1:n.1309_1310insTTAA | ||
| ENST00000371321.7:c.256_257insTTAA | ENSP00000360372.3:p.Ala86ValfsTer5 | |
| ENST00000464755.1:c.1019_1020insTTAA | ENSP00000483243.1:n.1019_1020insTTAA | |
| ENST00000480405.2:c.256_257insTTAA | ENSP00000483847.1:p.Ala86ValfsTer5 | |
| NM_000769.2:c.256_257insTTAA | NP_000760.1:p.Ala86ValfsTer5 | |
| NM_000769.4:c.256_257insTTAA MANE Select | NP_000760.1:p.Ala86ValfsTer5 |