Linked Data
gnomAD v4:
19-45766932-C-CG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45766936dup , CM000681.2:g.45766936dup | GRCh38 |
| NC_000019.9:g.46270194dup , CM000681.1:g.46270194dup | GRCh37 |
| NC_000019.8:g.50962034dup | NCBI36 |
| NG_012745.1:g.7307dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317578.7:c.1026dup MANE Select | ENSP00000316842.4:p.Val343ArgfsTer? | |
| ENST00000317578.6:c.1026dup | ENSP00000316842.4:p.Val343ArgfsTer? | |
| ENST00000560160.1:c.587-822dup | ||
| ENST00000560168.1:c.*214dup | ENSP00000453189.2:n.*214dup | |
| ENST00000622857.1:c.16-971dup | ENSP00000481365.1:n.16-971dup | |
| NM_175875.4:c.1026dup | NP_787071.2:p.Val343ArgfsTer? | |
| NM_175875.5:c.1026dup MANE Select | NP_787071.3:p.Val343ArgfsTer? |