Linked Data
gnomAD v4:
1-100539647-C-CGCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100539648_100539649insCTG , CM000663.2:g.100539648_100539649insCTG | GRCh38 |
| NC_000001.10:g.101005204_101005205insCTG , CM000663.1:g.101005204_101005205insCTG | GRCh37 |
| NC_000001.9:g.100777792_100777793insCTG | NCBI36 |
| NG_053134.1:g.6477_6478insCTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315033.5:c.682_683insCTG MANE Select | ENSP00000314223.4:p.Ser227_Val228insAla | |
| ENST00000315033.4:c.682_683insCTG | ENSP00000314223.4:p.Ser227_Val228insAla | |
| NM_022049.2:c.682_683insCTG | NP_071332.2:p.Ser227_Val228insAla | |
| NM_022049.3:c.682_683insCTG MANE Select | NP_071332.2:p.Ser227_Val228insAla |