Linked Data
gnomAD v4:
1-100539707-C-CAGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100539707_100539708insAGA , CM000663.2:g.100539707_100539708insAGA | GRCh38 |
| NC_000001.10:g.101005263_101005264insAGA , CM000663.1:g.101005263_101005264insAGA | GRCh37 |
| NC_000001.9:g.100777851_100777852insAGA | NCBI36 |
| NG_053134.1:g.6536_6537insAGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315033.5:c.741_742insAGA MANE Select | ENSP00000314223.4:p.Phe247_Pro248insArg | |
| ENST00000315033.4:c.741_742insAGA | ENSP00000314223.4:p.Phe247_Pro248insArg | |
| NM_022049.2:c.741_742insAGA | NP_071332.2:p.Phe247_Pro248insArg | |
| NM_022049.3:c.741_742insAGA MANE Select | NP_071332.2:p.Phe247_Pro248insArg |