Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52488356_52488358dup , CM000674.2:g.52488356_52488358dup | GRCh38 |
| NC_000012.11:g.52882140_52882142dup , CM000674.1:g.52882140_52882142dup | GRCh37 |
| NC_000012.10:g.51168407_51168409dup | NCBI36 |
| NG_008298.1:g.10040_10042dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.1394_1396dup MANE Select | ENSP00000369317.3:p.Tyr465_Arg466insHis | |
| ENST00000330722.6:c.1394_1396dup | ENSP00000369317.3:p.Tyr465_Arg466insHis | |
| NM_005554.3:c.1394_1396dup | NP_005545.1:p.Tyr465_Arg466insHis | |
| NM_005554.4:c.1394_1396dup MANE Select | NP_005545.1:p.Tyr465_Arg466insHis |