Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52451363_52451364delinsTG , CM000674.2:g.52451363_52451364delinsTG | GRCh38 |
| NC_000012.11:g.52845147_52845148delinsTG , CM000674.1:g.52845147_52845148delinsTG | GRCh37 |
| NC_000012.10:g.51131414_51131415delinsTG | NCBI36 |
| NG_008299.1:g.5763_5764delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252252.4:c.540+175_540+176delinsCA MANE Select | ENSP00000252252.3:n.540+175_540+176delinsCA | |
| ENST00000252252.3:c.540+175_540+176delinsCA | ENSP00000252252.3:n.540+175_540+176delinsCA | |
| NM_005555.3:c.540+175_540+176delinsCA | NP_005546.2:n.540+175_540+176delinsCA | |
| NM_005555.4:c.540+175_540+176delinsCA MANE Select | NP_005546.2:n.540+175_540+176delinsCA |