Linked Data
gnomAD v4:
21-45990481-G-GTGAGGTGATAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990481_45990482insTGAGGTGATAC , CM000683.2:g.45990481_45990482insTGAGGTGATAC | GRCh38 |
| NC_000021.8:g.47410395_47410396insTGAGGTGATAC , CM000683.1:g.47410395_47410396insTGAGGTGATAC | GRCh37 |
| NC_000021.7:g.46234823_46234824insTGAGGTGATAC | NCBI36 |
| NG_008674.1:g.13733_13734insTGAGGTGATAC , LRG_475:g.13733_13734insTGAGGTGATAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+59_1002+60insTGAGGTGATAC MANE Select | ENSP00000355180.3:n.1002+59_1002+60insTGAGGTGATAC | |
| ENST00000361866.7:c.1002+59_1002+60insTGAGGTGATAC | ENSP00000355180.3:n.1002+59_1002+60insTGAGGTGATAC | |
| ENST00000612273.1:c.1002+59_1002+60insTGAGGTGATAC | ENSP00000483630.1:n.1002+59_1002+60insTGAGGTGATAC | |
| NM_001848.2:c.1002+59_1002+60insTGAGGTGATAC , LRG_475t1:c.1002+59_1002+60insTGAGGTGATAC | NP_001839.2:n.1002+59_1002+60insTGAGGTGATAC | |
| NM_001848.3:c.1002+59_1002+60insTGAGGTGATAC MANE Select | NP_001839.2:n.1002+59_1002+60insTGAGGTGATAC |