Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52451682_52451683delinsCA , CM000674.2:g.52451682_52451683delinsCA | GRCh38 |
| NC_000012.11:g.52845466_52845467delinsCA , CM000674.1:g.52845466_52845467delinsCA | GRCh37 |
| NC_000012.10:g.51131733_51131734delinsCA | NCBI36 |
| NG_008299.1:g.5444_5445delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252252.4:c.396_397delinsTG MANE Select | ENSP00000252252.3:p.Pro132= | |
| ENST00000252252.3:c.396_397delinsTG | ENSP00000252252.3:p.Pro132= | |
| NM_005555.3:c.396_397delinsTG | NP_005546.2:p.Pro132= | |
| NM_005555.4:c.396_397delinsTG MANE Select | NP_005546.2:p.Pro132= |