Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20888378_20888379delinsAT , CM000684.2:g.20888378_20888379delinsAT | GRCh38 |
| NC_000022.10:g.21242666_21242667delinsAT , CM000684.1:g.21242666_21242667delinsAT | GRCh37 |
| NC_000022.9:g.19572666_19572667delinsAT | NCBI36 |
| NG_012152.1:g.34375_34376delinsAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215730.12:c.*542_*543delinsAT MANE Select | ENSP00000215730.6:n.*542_*543delinsAT | |
| ENST00000215730.11:c.*542_*543delinsAT | ENSP00000215730.6:n.*542_*543delinsAT | |
| NM_004782.3:c.*542_*543delinsAT | NP_004773.1:n.*542_*543delinsAT | |
| NM_004782.4:c.*542_*543delinsAT MANE Select | NP_004773.1:n.*542_*543delinsAT |