Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52451319_52451320delinsAT , CM000674.2:g.52451319_52451320delinsAT | GRCh38 |
| NC_000012.11:g.52845103_52845104delinsAT , CM000674.1:g.52845103_52845104delinsAT | GRCh37 |
| NC_000012.10:g.51131370_51131371delinsAT | NCBI36 |
| NG_008299.1:g.5807_5808delinsAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252252.4:c.540+219_540+220delinsAT MANE Select | ENSP00000252252.3:n.540+219_540+220delinsAT | |
| ENST00000252252.3:c.540+219_540+220delinsAT | ENSP00000252252.3:n.540+219_540+220delinsAT | |
| NM_005555.3:c.540+219_540+220delinsAT | NP_005546.2:n.540+219_540+220delinsAT | |
| NM_005555.4:c.540+219_540+220delinsAT MANE Select | NP_005546.2:n.540+219_540+220delinsAT |