Linked Data
ClinVar Variation Id:
1021605
ClinVar RCV Id:
RCV001321398
dbSNP Id:
rs1299258914
gnomAD v3:
20-63350380-A-AC
gnomAD v4:
20-63350380-A-AC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63350383dup , CM000682.2:g.63350383dup | GRCh38 |
| NC_000020.10:g.61981735dup , CM000682.1:g.61981735dup | GRCh37 |
| NC_000020.9:g.61452179dup | NCBI36 |
| NG_011931.1:g.15963dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.1030dup MANE Select | ENSP00000359285.4:p.Val344GlyfsTer? | |
| ENST00000370263.8:c.1030dup | ENSP00000359285.4:p.Val344GlyfsTer? | |
| ENST00000463705.5:n.1678dup | ||
| ENST00000467563.3:n.1100dup | ||
| ENST00000498043.6:c.1054dup | ||
| ENST00000615287.4:c.817dup | ENSP00000483388.1:p.Val273GlyfsTer? | |
| ENST00000627000.1:c.*719dup | ENSP00000486914.1:n.*719dup | |
| ENST00000630240.1:n.751dup | ||
| NM_000744.6:c.1030dup | NP_000735.1:p.Val344GlyfsTer? | |
| NM_001256573.1:c.502dup | NP_001243502.1:p.Val168GlyfsTer? | |
| NR_046317.1:n.1286dup | ||
| XM_011528524.1:c.817dup | XP_011526826.1:p.Val273GlyfsTer? | |
| XM_017027625.2:c.502dup | XP_016883114.1:p.Val168GlyfsTer? | |
| XM_024451822.1:c.502dup | XP_024307590.1:p.Val168GlyfsTer? | |
| NM_001256573.2:c.502dup | NP_001243502.1:p.Val168GlyfsTer? | |
| NR_046317.2:n.1239dup | ||
| NM_000744.7:c.1030dup MANE Select | NP_000735.1:p.Val344GlyfsTer? |