Linked Data
gnomAD v4:
17-41586803-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586804del , CM000679.2:g.41586804del | GRCh38 |
| NC_000017.10:g.39743056del , CM000679.1:g.39743056del | GRCh37 |
| NC_000017.9:g.36996582del | NCBI36 |
| NG_008624.1:g.5092del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.31del MANE Select | ENSP00000167586.6:p.Ser11ProfsTer4 | |
| ENST00000167586.6:c.31del | ENSP00000167586.6:p.Ser11ProfsTer4 | |
| NM_000526.4:c.31del | NP_000517.2:p.Ser11ProfsTer4 | |
| NM_000526.5:c.31del MANE Select | NP_000517.3:p.Ser11ProfsTer4 |