Linked Data
gnomAD v4:
19-45766493-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45766497del , CM000681.2:g.45766497del | GRCh38 |
| NC_000019.9:g.46269755del , CM000681.1:g.46269755del | GRCh37 |
| NC_000019.8:g.50961595del | NCBI36 |
| NG_012745.1:g.7746del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317578.7:c.1465del MANE Select | ENSP00000316842.4:p.Gln489ArgfsTer17 | |
| ENST00000317578.6:c.1465del | ENSP00000316842.4:p.Gln489ArgfsTer17 | |
| ENST00000560160.1:c.587-383del | ||
| ENST00000560168.1:c.*653del | ENSP00000453189.2:n.*653del | |
| ENST00000622857.1:c.16-532del | ENSP00000481365.1:n.16-532del | |
| NM_175875.4:c.1465del | NP_787071.2:p.Gln489ArgfsTer17 | |
| NM_175875.5:c.1465del MANE Select | NP_787071.3:p.Gln489ArgfsTer17 |