Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924732_27924733delinsTC , CM000675.2:g.27924732_27924733delinsTC | GRCh38 |
| NC_000013.10:g.28498869_28498870delinsTC , CM000675.1:g.28498869_28498870delinsTC | GRCh37 |
| NC_000013.9:g.27396869_27396870delinsTC | NCBI36 |
| NG_008183.1:g.9702_9703delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.*31_*32delinsTC MANE Select | ENSP00000370421.4:n.*31_*32delinsTC | |
| ENST00000381033.4:c.*31_*32delinsTC | ENSP00000370421.4:n.*31_*32delinsTC | |
| NM_000209.3:c.*31_*32delinsTC | NP_000200.1:n.*31_*32delinsTC | |
| NM_000209.4:c.*31_*32delinsTC MANE Select | NP_000200.1:n.*31_*32delinsTC |