Linked Data
gnomAD v4:
10-94781852-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94781855del , CM000672.2:g.94781855del | GRCh38 |
| NC_000010.10:g.96541612del , CM000672.1:g.96541612del | GRCh37 |
| NC_000010.9:g.96531602del | NCBI36 |
| NG_008384.2:g.24150del | |
| NG_008384.3:g.24175del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.677del MANE Select | ENSP00000360372.3:p.Phe226SerfsTer23 | |
| ENST00000645461.1:n.1730del | ||
| ENST00000371321.7:c.677del | ENSP00000360372.3:p.Phe226SerfsTer23 | |
| ENST00000464755.1:c.1440del | ENSP00000483243.1:n.1440del | |
| NM_000769.2:c.677del | NP_000760.1:p.Phe226SerfsTer23 | |
| NM_000769.4:c.677del MANE Select | NP_000760.1:p.Phe226SerfsTer23 |