Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3115013_3115014delinsTT , CM000681.2:g.3115013_3115014delinsTT | GRCh38 |
| NC_000019.9:g.3115011_3115012delinsTT , CM000681.1:g.3115011_3115012delinsTT | GRCh37 |
| NC_000019.8:g.3066011_3066012delinsTT | NCBI36 |
| NG_033852.2:g.25604_25605delinsTT |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002067.5:c.546_547delinsTT MANE Select | NP_002058.2:p.Arg183Cys |
| ENST00000078429.9:c.546_547delinsTT MANE Select | ENSP00000078429.3:p.Arg183Cys |
| NM_002067.4:c.546_547delinsTT | NP_002058.2:p.Arg183Cys |
| ENST00000078429.8:c.546_547delinsTT | ENSP00000078429.3:p.Arg183Cys |
| ENST00000587636.1:c.92_93delinsTT | |
| ENST00000588401.1:c.67_68delinsTT |