Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173329_173330insCTC , CM000678.2:g.173329_173330insCTC | GRCh38 |
| NC_000016.9:g.223328_223329insCTC , CM000678.1:g.223328_223329insCTC | GRCh37 |
| NC_000016.8:g.163328_163329insCTC | NCBI36 |
| NG_000006.1:g.34192_34193insCTC | |
| NG_059186.1:g.1679_1680insCTC | |
| NG_059271.1:g.5483_5484insCTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.300_300+1insCTC MANE Select | ENSP00000251595.6:n.300_300+1insCTC | |
| ENST00000251595.10:c.300_300+1insCTC | ENSP00000251595.6:n.300_300+1insCTC | |
| ENST00000397806.1:c.204_204+1insCTC | ENSP00000380908.1:n.204_204+1insCTC | |
| ENST00000482565.1:n.436_436+1insCTC | ||
| ENST00000484216.1:n.269_270insCTC | ||
| NM_000517.4:c.300_300+1insCTC | NP_000508.1:n.300_300+1insCTC | |
| NM_000517.6:c.300_300+1insCTC MANE Select | NP_000508.1:n.300_300+1insCTC |