Linked Data
ClinVar Variation Id:
557818
ClinVar RCV Id:
RCV000674005
dbSNP Id:
rs1555191573
MyVariant Identifiers:
chr11:g.119028299dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119028299dup , CM000673.2:g.119028299dup | GRCh38 |
| NC_000011.9:g.118899009dup , CM000673.1:g.118899009dup | GRCh37 |
| NC_000011.8:g.118404219dup | NCBI36 |
| NG_013331.1:g.7608dup , LRG_187:g.7608dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.505dup | ||
| ENST00000697845.1:n.429dup | ||
| ENST00000697846.1:n.505dup | ||
| ENST00000697847.1:n.505dup | ||
| ENST00000697848.1:n.505dup | ||
| ENST00000697849.1:n.1544dup | ||
| ENST00000697850.1:n.505dup | ||
| ENST00000697851.1:n.1544dup | ||
| ENST00000638186.1:n.579dup | ||
| ENST00000638360.1:n.513dup | ||
| ENST00000638925.1:n.512dup | ||
| ENST00000650539.1:n.681dup | ||
| ENST00000330775.9:c.276dup | ENSP00000476242.2:p.Phe93IlefsTer18 | |
| ENST00000357590.9:c.276dup | ENSP00000476176.2:p.Phe93IlefsTer18 | |
| ENST00000524428.5:n.276dup | ||
| ENST00000525039.5:n.699dup | ||
| ENST00000525102.5:n.1033dup | ||
| ENST00000525372.5:n.276dup | ||
| ENST00000525787.1:n.571dup | ||
| ENST00000526275.5:n.736dup | ||
| ENST00000526626.6:n.344-427dup | ||
| ENST00000527992.5:n.503dup | ||
| ENST00000529510.5:n.294dup | ||
| ENST00000530407.5:n.425dup | ||
| ENST00000532085.1:n.2565dup | ||
| ENST00000532888.6:n.571dup | ||
| ENST00000534384.1:n.496dup | ||
| ENST00000538950.5:c.57dup | ENSP00000475991.2:p.Phe20IlefsTer18 | |
| ENST00000545985.5:c.276dup | ENSP00000475241.2:p.Phe93IlefsTer18 | |
| NM_001164277.1:c.276dup , LRG_187t1:c.276dup | NP_001157749.1:p.Phe93IlefsTer18 | |
| NM_001164278.1:c.276dup | NP_001157750.1:p.Phe93IlefsTer18 | |
| NM_001164279.1:c.57dup | NP_001157751.1:p.Phe20IlefsTer18 | |
| NM_001164280.1:c.276dup | NP_001157752.1:p.Phe93IlefsTer18 | |
| NM_001467.5:c.276dup | NP_001458.1:p.Phe93IlefsTer18 | |
| NM_001164278.2:c.276dup | NP_001157750.1:p.Phe93IlefsTer18 | |
| NM_001164279.2:c.57dup | NP_001157751.1:p.Phe20IlefsTer18 | |
| NM_001164280.2:c.276dup | NP_001157752.1:p.Phe93IlefsTer18 | |
| NM_001467.6:c.276dup | NP_001458.1:p.Phe93IlefsTer18 | |
| NM_001164277.2:c.276dup MANE Select | NP_001157749.1:p.Phe93IlefsTer18 |