Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20888132_20888134delinsGTT , CM000684.2:g.20888132_20888134delinsGTT | GRCh38 |
| NC_000022.10:g.21242420_21242422delinsGTT , CM000684.1:g.21242420_21242422delinsGTT | GRCh37 |
| NC_000022.9:g.19572420_19572422delinsGTT | NCBI36 |
| NG_012152.1:g.34129_34131delinsGTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215730.12:c.*296_*298delinsGTT MANE Select | ENSP00000215730.6:n.*296_*298delinsGTT | |
| ENST00000215730.11:c.*296_*298delinsGTT | ENSP00000215730.6:n.*296_*298delinsGTT | |
| NM_004782.3:c.*296_*298delinsGTT | NP_004773.1:n.*296_*298delinsGTT | |
| NM_004782.4:c.*296_*298delinsGTT MANE Select | NP_004773.1:n.*296_*298delinsGTT |