Linked Data
gnomAD v4:
10-80280451-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80280455del , CM000672.2:g.80280455del | GRCh38 |
| NC_000010.10:g.82040211del , CM000672.1:g.82040211del | GRCh37 |
| NC_000010.9:g.82030191del | NCBI36 |
| NG_008083.1:g.14227del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.406-136del MANE Select | ENSP00000361287.3:n.406-136del | |
| ENST00000372213.7:c.406-136del | ENSP00000361287.3:n.406-136del | |
| ENST00000455001.1:c.217-136del | ENSP00000414961.1:n.217-136del | |
| NM_000429.2:c.406-136del | NP_000420.1:n.406-136del | |
| XM_005269842.3:c.406-136del | XP_005269899.1:n.406-136del | |
| XM_005269843.3:c.283-136del | XP_005269900.1:n.283-136del | |
| NM_000429.3:c.406-136del MANE Select | NP_000420.1:n.406-136del |