Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1535347_1535348delinsTC , CM000663.2:g.1535347_1535348delinsTC | GRCh38 |
| NC_000001.10:g.1470727_1470728delinsTC , CM000663.1:g.1470727_1470728delinsTC | GRCh37 |
| NC_000001.9:g.1460590_1460591delinsTC | NCBI36 |
| NG_041807.1:g.10013_10014delinsGA | |
| NG_053035.1:g.28205_28206delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378733.9:c.*11_*12delinsGA MANE Select | ENSP00000368007.4:n.*11_*12delinsGA | |
| ENST00000378733.8:c.*11_*12delinsGA | ENSP00000368007.4:n.*11_*12delinsGA | |
| ENST00000425828.1:c.*11_*12delinsGA | ENSP00000400311.1:n.*11_*12delinsGA | |
| NM_001114748.1:c.*11_*12delinsGA | NP_001108220.1:n.*11_*12delinsGA | |
| NM_001114748.2:c.*11_*12delinsGA MANE Select | NP_001108220.1:n.*11_*12delinsGA |