Linked Data
gnomAD v4:
21-45990489-G-GCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990489_45990490insCA , CM000683.2:g.45990489_45990490insCA | GRCh38 |
| NC_000021.8:g.47410403_47410404insCA , CM000683.1:g.47410403_47410404insCA | GRCh37 |
| NC_000021.7:g.46234831_46234832insCA | NCBI36 |
| NG_008674.1:g.13741_13742insCA , LRG_475:g.13741_13742insCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+67_1002+68insCA MANE Select | ENSP00000355180.3:n.1002+67_1002+68insCA | |
| ENST00000361866.7:c.1002+67_1002+68insCA | ENSP00000355180.3:n.1002+67_1002+68insCA | |
| ENST00000612273.1:c.1002+67_1002+68insCA | ENSP00000483630.1:n.1002+67_1002+68insCA | |
| NM_001848.2:c.1002+67_1002+68insCA , LRG_475t1:c.1002+67_1002+68insCA | NP_001839.2:n.1002+67_1002+68insCA | |
| NM_001848.3:c.1002+67_1002+68insCA MANE Select | NP_001839.2:n.1002+67_1002+68insCA |