Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30314108_30314109insA , CM000672.2:g.30314108_30314109insA | GRCh38 |
| NC_000010.10:g.30603037_30603038insA , CM000672.1:g.30603037_30603038insA | GRCh37 |
| NC_000010.9:g.30643043_30643044insA | NCBI36 |
| NG_028096.1:g.40230_40231insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263063.9:c.1387-138_1387-137insT MANE Select | ENSP00000263063.3:n.1387-138_1387-137insT | |
| ENST00000263063.8:c.1387-138_1387-137insT | ENSP00000263063.3:n.1387-138_1387-137insT | |
| ENST00000488290.5:n.3142-138_3142-137insT | ||
| NM_018109.3:c.1387-138_1387-137insT | NP_060579.3:n.1387-138_1387-137insT | |
| NM_018109.4:c.1387-138_1387-137insT MANE Select | NP_060579.3:n.1387-138_1387-137insT |