Linked Data
gnomAD v4:
10-94989203-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94989204del , CM000672.2:g.94989204del | GRCh38 |
| NC_000010.10:g.96748961del , CM000672.1:g.96748961del | GRCh37 |
| NC_000010.9:g.96738951del | NCBI36 |
| NG_008385.1:g.55547del | |
| NG_008385.2:g.56047del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.*176del MANE Select | ENSP00000260682.6:n.*176del | |
| ENST00000643112.1:c.*658del | ENSP00000496202.1:n.*658del | |
| ENST00000260682.6:c.*176del | ENSP00000260682.6:n.*176del | |
| NM_000771.3:c.*176del | NP_000762.2:n.*176del | |
| NM_000771.4:c.*176del MANE Select | NP_000762.2:n.*176del |