Linked Data
gnomAD v4:
21-45990549-GGGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990550_45990552del , CM000683.2:g.45990550_45990552del | GRCh38 |
| NC_000021.8:g.47410464_47410466del , CM000683.1:g.47410464_47410466del | GRCh37 |
| NC_000021.7:g.46234892_46234894del | NCBI36 |
| NG_008674.1:g.13802_13804del , LRG_475:g.13802_13804del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+128_1002+130del MANE Select | ENSP00000355180.3:n.1002+128_1002+130del | |
| ENST00000361866.7:c.1002+128_1002+130del | ENSP00000355180.3:n.1002+128_1002+130del | |
| ENST00000612273.1:c.1002+128_1002+130del | ENSP00000483630.1:n.1002+128_1002+130del | |
| NM_001848.2:c.1002+128_1002+130del , LRG_475t1:c.1002+128_1002+130del | NP_001839.2:n.1002+128_1002+130del | |
| NM_001848.3:c.1002+128_1002+130del MANE Select | NP_001839.2:n.1002+128_1002+130del |