Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140333235_140333236delinsTG , CM000667.2:g.140333235_140333236delinsTG | GRCh38 |
| NC_000005.9:g.139712820_139712821delinsTG , CM000667.1:g.139712820_139712821delinsTG | GRCh37 |
| NC_000005.8:g.139693004_139693005delinsTG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230990.7:c.*1063_*1064delinsCA MANE Select | ENSP00000230990.6:n.*1063_*1064delinsCA | |
| ENST00000230990.6:c.*1063_*1064delinsCA | ENSP00000230990.6:n.*1063_*1064delinsCA | |
| NM_001945.2:c.*1063_*1064delinsCA | NP_001936.1:n.*1063_*1064delinsCA | |
| NM_001945.3:c.*1063_*1064delinsCA MANE Select | NP_001936.1:n.*1063_*1064delinsCA |