Linked Data
ClinVar Variation Id:
21717
ClinVar RCV Id:
RCV000020920
dbSNP Id:
rs193302851
PubMed:
PMID:20301784
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362317dup , CM000678.2:g.1362317dup | GRCh38 |
| NC_000016.9:g.1412318dup , CM000678.1:g.1412318dup | GRCh37 |
| NC_000016.8:g.1352319dup | NCBI36 |
| NG_016985.1:g.15419dup | |
| NG_033129.1:g.57388dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000527168.6:n.622dup | ||
| ENST00000529110.2:c.607dup | ENSP00000435349.2:p.Leu203ProfsTer24 | |
| ENST00000529957.6:n.581dup | ||
| ENST00000683366.1:c.*255dup | ENSP00000507283.1:n.*255dup | |
| ENST00000683887.1:c.571dup | ENSP00000506886.1:p.Leu191ProfsTer24 | |
| ENST00000684100.1:n.517dup | ||
| ENST00000684126.1:n.581dup | ||
| ENST00000684688.1:n.1148dup | ||
| ENST00000204679.9:c.523dup MANE Select | ENSP00000204679.4:p.Leu175ProfsTer24 | |
| ENST00000204679.8:c.523dup | ENSP00000204679.4:p.Leu175ProfsTer24 | |
| ENST00000527076.1:n.1539dup | ||
| ENST00000527168.5:n.559dup | ||
| ENST00000529957.5:n.622dup | ||
| NM_032520.4:c.523dup | NP_115909.1:p.Leu175ProfsTer24 | |
| XM_017023782.1:c.571dup | XP_016879271.1:p.Leu191ProfsTer24 | |
| XM_017023783.1:c.163dup | XP_016879272.1:p.Leu55ProfsTer24 | |
| NM_032520.5:c.523dup MANE Select | NP_115909.1:p.Leu175ProfsTer24 |