Linked Data
ClinVar Variation Id:
235246
ClinVar RCV Id:
RCV000224524
dbSNP Id:
rs879255541
gnomAD v2:
19-50368616-A-AC
gnomAD v4:
19-49865359-A-AC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49865364dup , CM000681.2:g.49865364dup | GRCh38 |
| NC_000019.9:g.50368621dup , CM000681.1:g.50368621dup | GRCh37 |
| NC_000019.8:g.55060433dup | NCBI36 |
| NG_027717.1:g.7206dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000322344.8:c.265dup MANE Select | ENSP00000323511.2:p.Val89GlyfsTer? | |
| ENST00000636214.1:c.199-118dup | ENSP00000489983.1:n.199-118dup | |
| ENST00000322344.7:c.265dup | ENSP00000323511.2:p.Val89GlyfsTer? | |
| ENST00000593946.5:c.*192dup | ENSP00000468896.1:n.*192dup | |
| ENST00000594661.5:n.679dup | ||
| ENST00000596014.5:c.265dup | ENSP00000472300.1:p.Val89GlyfsTer? | |
| ENST00000596726.3:c.265dup | ENSP00000470887.2:p.Val89GlyfsTer? | |
| ENST00000598020.3:c.*192dup | ENSP00000470346.1:n.*192dup | |
| ENST00000599543.3:c.265dup | ENSP00000469848.2:p.Val89GlyfsTer? | |
| ENST00000600573.5:c.265dup | ENSP00000469826.1:p.Val89GlyfsTer? | |
| ENST00000600910.5:c.265dup | ENSP00000473137.1:p.Val89GlyfsTer? | |
| ENST00000625299.1:n.183dup | ||
| ENST00000627232.2:c.265dup | ENSP00000486037.1:p.Val89GlyfsTer? | |
| ENST00000627317.1:c.24dup | ||
| ENST00000629179.1:n.183-957dup | ||
| ENST00000631020.2:c.265dup | ENSP00000486707.1:p.Val89GlyfsTer? | |
| NM_007254.3:c.265dup | NP_009185.2:p.Val89GlyfsTer? | |
| NM_007254.4:c.265dup MANE Select | NP_009185.2:p.Val89GlyfsTer? |