Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1444412_1444413delinsAC , CM000667.2:g.1444412_1444413delinsAC | GRCh38 |
| NC_000005.9:g.1444527_1444528delinsAC , CM000667.1:g.1444527_1444528delinsAC | GRCh37 |
| NC_000005.8:g.1497527_1497528delinsAC | NCBI36 |
| NG_015885.1:g.6016_6017delinsGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.-46+935_-46+936delinsGT MANE Select | ENSP00000270349.9:n.-46+935_-46+936delinsGT | |
| ENST00000270349.11:c.-46+935_-46+936delinsGT | ENSP00000270349.9:n.-46+935_-46+936delinsGT | |
| NM_001044.4:c.-46+935_-46+936delinsGT | NP_001035.1:n.-46+935_-46+936delinsGT | |
| NM_001044.5:c.-46+935_-46+936delinsGT MANE Select | NP_001035.1:n.-46+935_-46+936delinsGT |