Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1612975_1612976delinsCT , CM000668.2:g.1612975_1612976delinsCT | GRCh38 |
| NC_000006.11:g.1613210_1613211delinsCT , CM000668.1:g.1613210_1613211delinsCT | GRCh37 |
| NC_000006.10:g.1558209_1558210delinsCT | NCBI36 |
| NG_009368.1:g.7530_7531delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.*868_*869delinsCT MANE Select | ENSP00000493906.1:n.*868_*869delinsCT | |
| ENST00000380874.3:c.*868_*869delinsCT | ENSP00000370256.2:n.*868_*869delinsCT | |
| NM_001453.2:c.2530_2531delinsCT | NP_001444.2:n.2530_2531delinsCT | |
| NM_001453.3:c.*868_*869delinsCT MANE Select | NP_001444.2:n.*868_*869delinsCT |