Linked Data
gnomAD v4:
19-45766482-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45766486del , CM000681.2:g.45766486del | GRCh38 |
| NC_000019.9:g.46269744del , CM000681.1:g.46269744del | GRCh37 |
| NC_000019.8:g.50961584del | NCBI36 |
| NG_012745.1:g.7757del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317578.7:c.1476del MANE Select | ENSP00000316842.4:p.Leu494CysfsTer12 | |
| ENST00000317578.6:c.1476del | ENSP00000316842.4:p.Leu494CysfsTer12 | |
| ENST00000560160.1:c.587-372del | ||
| ENST00000560168.1:c.*664del | ENSP00000453189.2:n.*664del | |
| ENST00000622857.1:c.16-521del | ENSP00000481365.1:n.16-521del | |
| NM_175875.4:c.1476del | NP_787071.2:p.Leu494CysfsTer12 | |
| NM_175875.5:c.1476del MANE Select | NP_787071.3:p.Leu494CysfsTer12 |