Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610813_1610815delinsC , CM000668.2:g.1610813_1610815delinsC | GRCh38 |
| NC_000006.11:g.1611048_1611050delinsC , CM000668.1:g.1611048_1611050delinsC | GRCh37 |
| NC_000006.10:g.1556047_1556049delinsC | NCBI36 |
| NG_009368.1:g.5368_5370delinsC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.368_370delinsC MANE Select | ENSP00000493906.1:p.Gln123ProfsTer? | |
| ENST00000380874.3:c.368_370delinsC | ENSP00000370256.2:p.Gln123ProfsTer? | |
| NM_001453.2:c.368_370delinsC | NP_001444.2:p.Gln123ProfsTer? | |
| NM_001453.3:c.368_370delinsC MANE Select | NP_001444.2:p.Gln123ProfsTer? |