Linked Data
ClinVar Variation Id:
493105
ClinVar RCV Id:
RCV000585200
dbSNP Id:
rs1555191211
gnomAD v4:
11-119027640-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119027641dup , CM000673.2:g.119027641dup | GRCh38 |
| NC_000011.9:g.118898351dup , CM000673.1:g.118898351dup | GRCh37 |
| NC_000011.8:g.118403561dup | NCBI36 |
| NG_013331.1:g.8265dup , LRG_187:g.8265dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.842dup | ||
| ENST00000697845.1:n.766dup | ||
| ENST00000697846.1:n.842dup | ||
| ENST00000697847.1:n.842dup | ||
| ENST00000697848.1:n.842dup | ||
| ENST00000697849.1:n.1881dup | ||
| ENST00000697850.1:n.842dup | ||
| ENST00000697851.1:n.2202dup | ||
| ENST00000638186.1:n.916dup | ||
| ENST00000638360.1:n.748dup | ||
| ENST00000638925.1:n.849dup | ||
| ENST00000650539.1:n.1018dup | ||
| ENST00000330775.9:c.612dup | ENSP00000476242.2:p.Glu205Ter | |
| ENST00000357590.9:c.612dup | ENSP00000476176.2:p.Glu205Ter | |
| ENST00000524428.5:n.934dup | ||
| ENST00000525039.5:n.1036dup | ||
| ENST00000525102.5:n.1370dup | ||
| ENST00000525372.5:n.613dup | ||
| ENST00000526275.5:n.1394dup | ||
| ENST00000526626.6:n.575dup | ||
| ENST00000527992.5:n.840dup | ||
| ENST00000529510.5:n.400-546dup | ||
| ENST00000530407.5:n.762dup | ||
| ENST00000532085.1:n.3223dup | ||
| ENST00000532888.6:n.908dup | ||
| ENST00000538950.5:c.393dup | ENSP00000475991.2:p.Glu132Ter | |
| ENST00000545985.5:c.612dup | ENSP00000475241.2:p.Glu205Ter | |
| NM_001164277.1:c.612dup , LRG_187t1:c.612dup | NP_001157749.1:p.Glu205Ter | |
| NM_001164278.1:c.612dup | NP_001157750.1:p.Glu205Ter | |
| NM_001164279.1:c.393dup | NP_001157751.1:p.Glu132Ter | |
| NM_001164280.1:c.612dup | NP_001157752.1:p.Glu205Ter | |
| NM_001467.5:c.612dup | NP_001458.1:p.Glu205Ter | |
| NM_001164278.2:c.612dup | NP_001157750.1:p.Glu205Ter | |
| NM_001164279.2:c.393dup | NP_001157751.1:p.Glu132Ter | |
| NM_001164280.2:c.612dup | NP_001157752.1:p.Glu205Ter | |
| NM_001467.6:c.612dup | NP_001458.1:p.Glu205Ter | |
| NM_001164277.2:c.612dup MANE Select | NP_001157749.1:p.Glu205Ter |