Linked Data
ClinVar Variation Id:
421198
ClinVar RCV Id:
RCV000480091
dbSNP Id:
rs1064794970
MyVariant Identifiers:
chr12:g.12311887_12311888insGTGG (hg19)
chr12:g.12158953_12158954insGTGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12158953_12158954insGTGG , CM000674.2:g.12158953_12158954insGTGG | GRCh38 |
| NC_000012.11:g.12311887_12311888insGTGG , CM000674.1:g.12311887_12311888insGTGG | GRCh37 |
| NC_000012.10:g.12203154_12203155insGTGG | NCBI36 |
| NG_016168.1:g.112924_112925insCCAC | |
| NG_016168.2:g.112924_112925insCCAC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261349.9:c.2666_2667insCCAC (LRP6) MANE Select | ENSP00000261349.4:p.Trp890HisfsTer4 | |
| ENST00000261349.8:c.2666_2667insCCAC (LRP6) | ENSP00000261349.4:p.Trp890HisfsTer4 | |
| ENST00000298566.2:c.*24+19974_*24+19975insGTGG (BCL2L14) | ENSP00000298566.1:n.*24+19974_*24+19975in... | |
| ENST00000538239.5:c.2260_2261insCCAC (LRP6) | ||
| ENST00000543091.1:c.2666_2667insCCAC (LRP6) | ENSP00000442472.1:p.Trp890HisfsTer4 | |
| NM_002336.2:c.2666_2667insCCAC (LRP6) | NP_002327.2:p.Trp890HisfsTer4 | |
| XM_006719078.2:c.2666_2667insCCAC (LRP6) | XP_006719141.1:p.Trp890HisfsTer4 | |
| XM_011520671.1:c.2213_2214insCCAC (LRP6) | XP_011518973.1:p.Trp739HisfsTer4 | |
| XR_429034.1:n.2799_2800insCCAC (LRP6) | ||
| XR_429035.1:n.2799_2800insCCAC (LRP6) | ||
| XM_006719078.4:c.2666_2667insCCAC (LRP6) | XP_006719141.1:p.Trp890HisfsTer4 | |
| XM_011520671.3:c.2213_2214insCCAC (LRP6) | XP_011518973.1:p.Trp739HisfsTer4 | |
| XR_002957325.1:n.2799_2800insCCAC (LRP6) | ||
| XR_429035.3:n.2799_2800insCCAC (LRP6) | ||
| NM_002336.3:c.2666_2667insCCAC (LRP6) MANE Select | NP_002327.2:p.Trp890HisfsTer4 |