Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140333338_140333339delinsCA , CM000667.2:g.140333338_140333339delinsCA | GRCh38 |
| NC_000005.9:g.139712923_139712924delinsCA , CM000667.1:g.139712923_139712924delinsCA | GRCh37 |
| NC_000005.8:g.139693107_139693108delinsCA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230990.7:c.*960_*961delinsTG MANE Select | ENSP00000230990.6:n.*960_*961delinsTG | |
| ENST00000230990.6:c.*960_*961delinsTG | ENSP00000230990.6:n.*960_*961delinsTG | |
| NM_001945.2:c.*960_*961delinsTG | NP_001936.1:n.*960_*961delinsTG | |
| NM_001945.3:c.*960_*961delinsTG MANE Select | NP_001936.1:n.*960_*961delinsTG |