Linked Data
gnomAD v4:
10-47350550-A-ATG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47350550_47350551insTG , CM000672.2:g.47350550_47350551insTG | GRCh38 |
| NC_000010.10:g.48388811_48388812insCA , CM000672.1:g.48388811_48388812insCA | GRCh37 |
| NC_000010.9:g.48008817_48008818insCA | NCBI36 |
| NG_029718.1:g.7180_7181insTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.2066_2067insTG MANE Select | ENSP00000463151.1:p.Leu690AlafsTer12 | |
| ENST00000584701.1:c.2066_2067insTG | ENSP00000463151.1:p.Leu690AlafsTer12 | |
| NM_002900.2:c.2066_2067insTG | NP_002891.1:p.Leu690AlafsTer12 | |
| NM_002900.3:c.2066_2067insTG MANE Select | NP_002891.1:p.Leu690AlafsTer12 |