Linked Data
gnomAD v4:
21-45990548-G-GAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990548_45990549insAT , CM000683.2:g.45990548_45990549insAT | GRCh38 |
| NC_000021.8:g.47410462_47410463insAT , CM000683.1:g.47410462_47410463insAT | GRCh37 |
| NC_000021.7:g.46234890_46234891insAT | NCBI36 |
| NG_008674.1:g.13800_13801insAT , LRG_475:g.13800_13801insAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+126_1002+127insAT MANE Select | ENSP00000355180.3:n.1002+126_1002+127insAT | |
| ENST00000361866.7:c.1002+126_1002+127insAT | ENSP00000355180.3:n.1002+126_1002+127insAT | |
| ENST00000612273.1:c.1002+126_1002+127insAT | ENSP00000483630.1:n.1002+126_1002+127insAT | |
| NM_001848.2:c.1002+126_1002+127insAT , LRG_475t1:c.1002+126_1002+127insAT | NP_001839.2:n.1002+126_1002+127insAT | |
| NM_001848.3:c.1002+126_1002+127insAT MANE Select | NP_001839.2:n.1002+126_1002+127insAT |