Linked Data
gnomAD v4:
21-45990554-G-GGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990555_45990556insTG , CM000683.2:g.45990555_45990556insTG | GRCh38 |
| NC_000021.8:g.47410469_47410470insTG , CM000683.1:g.47410469_47410470insTG | GRCh37 |
| NC_000021.7:g.46234897_46234898insTG | NCBI36 |
| NG_008674.1:g.13807_13808insTG , LRG_475:g.13807_13808insTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+133_1002+134insTG MANE Select | ENSP00000355180.3:n.1002+133_1002+134insTG | |
| ENST00000361866.7:c.1002+133_1002+134insTG | ENSP00000355180.3:n.1002+133_1002+134insTG | |
| ENST00000612273.1:c.1002+133_1002+134insTG | ENSP00000483630.1:n.1002+133_1002+134insTG | |
| NM_001848.2:c.1002+133_1002+134insTG , LRG_475t1:c.1002+133_1002+134insTG | NP_001839.2:n.1002+133_1002+134insTG | |
| NM_001848.3:c.1002+133_1002+134insTG MANE Select | NP_001839.2:n.1002+133_1002+134insTG |