Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610810_1610811insCT , CM000668.2:g.1610810_1610811insCT | GRCh38 |
| NC_000006.11:g.1611045_1611046insCT , CM000668.1:g.1611045_1611046insCT | GRCh37 |
| NC_000006.10:g.1556044_1556045insCT | NCBI36 |
| NG_009368.1:g.5365_5366insCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.365_366insCT MANE Select | ENSP00000493906.1:p.Trp122CysfsTer? | |
| ENST00000380874.3:c.365_366insCT | ENSP00000370256.2:p.Trp122CysfsTer? | |
| NM_001453.2:c.365_366insCT | NP_001444.2:p.Trp122CysfsTer? | |
| NM_001453.3:c.365_366insCT MANE Select | NP_001444.2:p.Trp122CysfsTer? |