Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16992479_16992480delinsAT , CM000670.2:g.16992479_16992480delinsAT | GRCh38 |
| NC_000008.10:g.16849988_16849989delinsAT , CM000670.1:g.16849988_16849989delinsAT | GRCh37 |
| NC_000008.9:g.16894359_16894360delinsAT | NCBI36 |
| NG_015978.1:g.14686_14687delinsAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000180166.6:c.*592_*593delinsAT MANE Select | ENSP00000180166.5:n.*592_*593delinsAT | |
| ENST00000180166.5:c.*592_*593delinsAT | ENSP00000180166.5:n.*592_*593delinsAT | |
| NM_019851.3:c.*592_*593delinsAT MANE Select | NP_062825.1:n.*592_*593delinsAT |