Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14978137_14978138insACT , CM000674.2:g.14978137_14978138insACT | GRCh38 |
| NC_000012.11:g.15131071_15131072insACT , CM000674.1:g.15131071_15131072insACT | GRCh37 |
| NC_000012.10:g.15022338_15022339insACT | NCBI36 |
| NG_016859.1:g.10116_10117insACT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266395.3:c.125_126insACT MANE Select | ENSP00000266395.2:p.Gly42_Val43insLeu | |
| ENST00000266395.2:c.125_126insACT | ENSP00000266395.2:p.Gly42_Val43insLeu | |
| NM_006205.2:c.125_126insACT | NP_006196.1:p.Gly42_Val43insLeu | |
| XR_931376.1:n.175+11349_175+11350insAGT | ||
| XM_017019431.2:c.125_126insACT | XP_016874920.1:p.Gly42_Val43insLeu | |
| XR_931376.2:n.389+11349_389+11350insAGT | ||
| NM_006205.3:c.125_126insACT MANE Select | NP_006196.1:p.Gly42_Val43insLeu |