Linked Data
ClinVar Variation Id:
552896
ClinVar RCV Id:
RCV000668245
dbSNP Id:
rs1555191121
gnomAD v4:
11-119027078-TCTC-T
MyVariant Identifiers:
chr11:g.119027079_119027081del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119027084_119027086del , CM000673.2:g.119027084_119027086del | GRCh38 |
| NC_000011.9:g.118897794_118897796del , CM000673.1:g.118897794_118897796del | GRCh37 |
| NC_000011.8:g.118403004_118403006del | NCBI36 |
| NG_013331.1:g.8825_8827del , LRG_187:g.8825_8827del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.870_872del | ||
| ENST00000697845.1:n.794_796del | ||
| ENST00000697846.1:n.870_872del | ||
| ENST00000697847.1:n.870_872del | ||
| ENST00000697848.1:n.870_872del | ||
| ENST00000697849.1:n.1909_1911del | ||
| ENST00000697850.1:n.870_872del | ||
| ENST00000697851.1:n.2230_2232del | ||
| ENST00000638186.1:n.944_946del | ||
| ENST00000638360.1:n.776_778del | ||
| ENST00000638925.1:n.877_879del | ||
| ENST00000650539.1:n.1046_1048del | ||
| ENST00000330775.9:c.640_642del | ENSP00000476242.2:p.Glu214del | |
| ENST00000357590.9:c.640_642del | ENSP00000476176.2:p.Glu214del | |
| ENST00000524428.5:n.962_964del | ||
| ENST00000525039.5:n.1064_1066del | ||
| ENST00000525102.5:n.1398_1400del | ||
| ENST00000525372.5:n.641_643del | ||
| ENST00000526275.5:n.1422_1424del | ||
| ENST00000526626.6:n.603_605del | ||
| ENST00000527992.5:n.868_870del | ||
| ENST00000529510.5:n.414_416del | ||
| ENST00000530407.5:n.790_792del | ||
| ENST00000532085.1:n.3251_3253del | ||
| ENST00000532888.6:n.936_938del | ||
| ENST00000538950.5:c.421_423del | ENSP00000475991.2:p.Glu141del | |
| ENST00000545985.5:c.640_642del | ENSP00000475241.2:p.Glu214del | |
| NM_001164277.1:c.640_642del , LRG_187t1:c.640_642del | NP_001157749.1:p.Glu214del | |
| NM_001164278.1:c.640_642del | NP_001157750.1:p.Glu214del | |
| NM_001164279.1:c.421_423del | NP_001157751.1:p.Glu141del | |
| NM_001164280.1:c.640_642del | NP_001157752.1:p.Glu214del | |
| NM_001467.5:c.640_642del | NP_001458.1:p.Glu214del | |
| NM_001164278.2:c.640_642del | NP_001157750.1:p.Glu214del | |
| NM_001164279.2:c.421_423del | NP_001157751.1:p.Glu141del | |
| NM_001164280.2:c.640_642del | NP_001157752.1:p.Glu214del | |
| NM_001467.6:c.640_642del | NP_001458.1:p.Glu214del | |
| NM_001164277.2:c.640_642del MANE Select | NP_001157749.1:p.Glu214del |