Linked Data
gnomAD v4:
17-41583870-CCATCTCCACATTGA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583880_41583893del , CM000679.2:g.41583880_41583893del | GRCh38 |
| NC_000017.10:g.39740132_39740145del , CM000679.1:g.39740132_39740145del | GRCh37 |
| NC_000017.9:g.36993658_36993671del | NCBI36 |
| NG_008624.1:g.8012_8025del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.803_816del MANE Select | ENSP00000167586.6:p.Val268GlyfsTer17 | |
| ENST00000167586.6:c.803_816del | ENSP00000167586.6:p.Val268GlyfsTer17 | |
| ENST00000476662.1:n.253_266del | ||
| NM_000526.4:c.803_816del | NP_000517.2:p.Val268GlyfsTer17 | |
| NM_000526.5:c.803_816del MANE Select | NP_000517.3:p.Val268GlyfsTer17 |