Linked Data
ClinVar Variation Id:
4759
ClinVar RCV Id:
RCV000005025
dbSNP Id:
rs587776606
PubMed:
PMID:11595972
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144398735dup , CM000664.2:g.144398735dup | GRCh38 |
| NC_000002.11:g.145156302dup , CM000664.1:g.145156302dup | GRCh37 |
| NC_000002.10:g.144872772dup | NCBI36 |
| NG_016431.1:g.126658dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000689298.1:c.*2302dup | ENSP00000508434.1:n.*2302dup | |
| ENST00000440875.6:c.1676dup | ENSP00000475553.3:p.Leu559PhefsTer23 | |
| ENST00000627532.3:c.2453dup MANE Select | ENSP00000487174.1:p.Leu818PhefsTer23 | |
| ENST00000636026.2:c.2453dup | ENSP00000490776.1:p.Leu818PhefsTer23 | |
| ENST00000636179.1:n.2422dup | ||
| ENST00000636413.1:c.2117dup | ENSP00000490508.1:p.Leu706PhefsTer23 | |
| ENST00000636471.1:c.2528dup | ENSP00000490317.1:p.Leu843PhefsTer23 | |
| ENST00000636732.2:c.*2170dup | ENSP00000490175.1:n.*2170dup | |
| ENST00000636820.1:n.2553dup | ||
| ENST00000637045.1:c.2117dup | ENSP00000490141.1:p.Leu706PhefsTer23 | |
| ENST00000637304.1:c.2117dup | ENSP00000490872.1:p.Leu706PhefsTer23 | |
| ENST00000638007.1:c.2117dup | ENSP00000490723.1:p.Leu706PhefsTer23 | |
| ENST00000638087.1:c.2117dup | ENSP00000490673.1:p.Leu706PhefsTer23 | |
| ENST00000638128.1:c.1676dup | ENSP00000490934.1:p.Leu559PhefsTer23 | |
| ENST00000675069.1:c.-17dup | ENSP00000502467.1:n.-17dup | |
| ENST00000675145.1:n.3001dup | ||
| ENST00000303660.8:c.2450dup | ENSP00000302501.4:p.Leu817PhefsTer23 | |
| ENST00000409487.7:c.2453dup | ENSP00000386854.2:p.Leu818PhefsTer23 | |
| ENST00000419938.5:c.655+2465dup | ENSP00000394777.2:n.655+2465dup | |
| ENST00000440875.5:c.1167+803dup | ENSP00000475553.2:n.1167+803dup | |
| ENST00000539609.7:c.2381dup | ENSP00000443792.2:p.Leu794PhefsTer23 | |
| ENST00000558170.6:c.2453dup | ENSP00000454157.1:p.Leu818PhefsTer23 | |
| ENST00000627532.2:c.2453dup | ENSP00000487174.1:p.Leu818PhefsTer23 | |
| NM_001171653.1:c.2381dup | NP_001165124.1:p.Leu794PhefsTer23 | |
| NM_014795.3:c.2453dup | NP_055610.1:p.Leu818PhefsTer23 | |
| XM_006712881.2:c.2453dup | XP_006712944.1:p.Leu818PhefsTer23 | |
| XM_006712882.2:c.2453dup | XP_006712945.1:p.Leu818PhefsTer23 | |
| XM_011512231.1:c.2444dup | XP_011510533.1:p.Leu815PhefsTer23 | |
| XM_011512232.1:c.2432dup | XP_011510534.1:p.Leu811PhefsTer23 | |
| NM_014795.4:c.2453dup MANE Select | NP_055610.1:p.Leu818PhefsTer23 | |
| NM_001171653.2:c.2381dup | NP_001165124.1:p.Leu794PhefsTer23 |