Linked Data
gnomAD v4:
10-44370547-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.44370550del , CM000672.2:g.44370550del | GRCh38 |
| NC_000010.10:g.44865998del , CM000672.1:g.44865998del | GRCh37 |
| NC_000010.9:g.44186004del | NCBI36 |
| NG_016861.1:g.19550del | |
| NG_016861.2:g.19550del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374429.6:c.*2780del | ENSP00000363551.2:n.*2780del | |
| NM_000609.6:c.*2780del | NP_000600.1:n.*2780del | |
| NM_001277990.1:c.*2340del | NP_001264919.1:n.*2340del | |
| XR_001747171.1:n.331+8089del | ||
| XR_001747172.1:n.331+8089del | ||
| XR_001747173.1:n.331+8089del | ||
| XR_001747174.1:n.331+8089del | ||
| NM_000609.7:c.*2780del | NP_000600.1:n.*2780del | |
| NM_001277990.2:c.*2340del | NP_001264919.1:n.*2340del |