Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94852671_94852672delinsGT , CM000672.2:g.94852671_94852672delinsGT | GRCh38 |
| NC_000010.10:g.96612428_96612429delinsGT , CM000672.1:g.96612428_96612429delinsGT | GRCh37 |
| NC_000010.9:g.96602418_96602419delinsGT | NCBI36 |
| NG_008384.2:g.94966_94967delinsGT | |
| NG_008384.3:g.94991_94992delinsGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.1292-62_1292-61delinsGT MANE Select | ENSP00000360372.3:n.1292-62_1292-61delinsGT | |
| ENST00000645461.1:n.2203-62_2203-61delinsGT | ||
| ENST00000371321.7:c.1292-62_1292-61delinsGT | ENSP00000360372.3:n.1292-62_1292-61delinsGT | |
| ENST00000464755.1:c.2055-62_2055-61delinsGT | ENSP00000483243.1:n.2055-62_2055-61delinsGT | |
| NM_000769.2:c.1292-62_1292-61delinsGT | NP_000760.1:n.1292-62_1292-61delinsGT | |
| NM_000769.4:c.1292-62_1292-61delinsGT MANE Select | NP_000760.1:n.1292-62_1292-61delinsGT |